Works matching DE "HUMAN missense mutation"

Results: 54

Identification of four novel mutations of the WFS1 gene in Iranian Wolfram syndrome pedigrees.

Published in:

Acta Diabetologica, 2016, v. 53, n. 6, p. 899, doi. 10.1007/s00592-016-0884-7

By:

Ghahraman, Martha;
Abbaszadegan, Mohammad;
Vakili, Rahim;
Hosseini, Sousan;
Fardi Golyan, Fatemeh;
Ghaemi, Nosrat;
Forghanifard, Mohammad

Publication type:

Article

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.

Published in:

Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0224-0

By:

Ruggieri, Alessandra;
Brancati, Francesco;
Zanotti, Simona;
Maggi, Lorenzo;
Pasanisi, Maria Barbara;
Saredi, Simona;
Terracciano, Chiara;
Antozzi, Carlo;
D'Apice, Maria Rosaria;
Sangiuolo, Federica;
Novelli, Giuseppe;
Marshall, Christian R.;
Scherer, Stephen W.;
Morandi, Lucia;
Federici, Luca;
Massa, Roberto;
Mora, Marina;
Minassian, Berge A.

Publication type:

Article

The keratin 16 null phenotype is modestly impacted by genetic strain background in mice.

Published in:

Experimental Dermatology, 2018, v. 27, n. 6, p. 672, doi. 10.1111/exd.13509

By:

Zieman, Abigail;
Coulombe, Pierre A.

Publication type:

Article

p63-dependent and independent mechanisms of nectin-1 and nectin-4 regulation in the epidermis.

Published in:

Experimental Dermatology, 2015, v. 24, n. 2, p. 114, doi. 10.1111/exd.12593

By:

Mollo, Maria Rosaria;
Antonini, Dario;
Mitchell, Karen;
Fortugno, Paola;
Costanzo, Antonio;
Dixon, Jill;
Brancati, Francesco;
Missero, Caterina

Publication type:

Article

Acute encephalopathy in Dravet syndrome: Case reports and literature review.

Published in:

2016

By:

Thi Thu Hang DO;
Thi Thuy Kieu HUYNH;
Thi Khanh Van LE

Publication type:

Case Study

X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene.

Published in:

2015

By:

D’Arcy, Colleen;
Kanellakis, Voula;
Forbes, Robin;
Wilding, Brendan;
McGrath, Meagan;
Howell, Katherine;
Ryan, Monique;
McLean, Catriona

Publication type:

Case Study

Inherited CARD9 Deficiency in 2 Unrelated Patients With Invasive Exophiala Infection.

Published in:

2015

By:

Lanternier, Fanny;
Barbati, Elisa;
Meinzer, Ulrich;
Luyan Liu;
Pedergnana, Vincent;
Migaud, Mélanie;
Héritier, Sébastien;
Chomton, Maryline;
Frémond, Marie-Louise;
Gonzales, Emmanuel;
Galeotti, Caroline;
Romana, Serge;
Jacquemin, Emmanuel;
Angoulvant, Adela;
Bidault, Valeska;
Canioni, Danielle;
Lachenaud, Julie;
Mansouri, Davood;
Mahdaviani, Seyed Alireza;
Adimi, Parvaneh

Publication type:

Case Study

A variant RhAG protein encoded by the RHAG*572A allele causes serological weak D expression while maintaining normal RhCE phenotypes.

Published in:

Transfusion, 2019, v. 59, n. 1, p. 405, doi. 10.1111/trf.14969

By:

Wen, Jizhi;
Verhagen, Onno J.H.M.;
Jia, Shuangshuang;
Liang, Qianni;
Wang, Zhen;
Wei, Ling;
Luo, Hong;
Luo, Guangping;
Vidarsson, Gestur;
Akker, Emile;
Ji, Yanli;
Schoot, C. Ellen

Publication type:

Article

A NOTCH4 missense mutation confers resistance to multiple sclerosis in Japanese.

Published in:

Multiple Sclerosis Journal, 2013, v. 19, n. 13, p. 1696, doi. 10.1177/1352458513482512

By:

Huang, Jian;
Yoshimura, Satoshi;
Isobe, Noriko;
Matsushita, Takuya;
Yonekawa, Tomomi;
Sato, Shinya;
Yamasaki, Ryo;
Kira, Jun-ichi

Publication type:

Article

CAMKIIγ, HSP70 and HSP90 transcripts are differentially expressed in chronic myeloid leukemia cells from patients with resistant mutated disease.

Published in:

Leukemia & Lymphoma, 2014, v. 55, n. 9, p. 2101, doi. 10.3109/10428194.2013.861070

By:

Gonzalez, Mariana;
De Brasi, Carlos;
Ferri, Cristian;
Bengió, Raquel;
Bianchini, Michele;
Larripa, Irene

Publication type:

Article

Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis.

Published in:

Human Genetics, 2015, v. 134, n. 6, p. 671, doi. 10.1007/s00439-015-1548-3

By:

Pehlivan, Davut;
Coban Akdemir, Zeynep;
Karaca, Ender;
Bayram, Yavuz;
Jhangiani, Shalini;
Yildiz, Edibe Pembegul;
Muzny, Donna;
Uluc, Kayihan;
Gibbs, Richard;
Elcioglu, Nursel;
Lupski, James;
Harel, Tamar

Publication type:

Article

No Evidence for Pathogenic Role of UBQLN2 Mutations in Sporadic Amyotrophic Lateral Sclerosis in the Mainland Chinese Population.

Published in:

PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0170943

By:

Huang, Xiao;
Shen, Shen;
Fan, Dongsheng

Publication type:

Article

GATA1 gene variants associated with thrombocytopenia and anemia.

Published in:

Platelets, 2017, v. 28, n. 7, p. 731, doi. 10.1080/09537104.2017.1361525

By:

Freson, Kathleen;
Wijgaerts, Anouck;
Van Geet, Chris

Publication type:

Article

Acrodermatitis Enteropathica: A Novel SLC39A4 Gene Mutation in a Patient with Normal Zinc Levels.

Published in:

Pediatric Dermatology, 2015, v. 32, n. 3, p. e124, doi. 10.1111/pde.12555

By:

Garza‐Rodríguez, Verónica;
Fuente‐García, Alberto;
Liy‐Wong, Carmen;
Küry, Sébastien;
Schmitt, Sébastien;
Jamall, Ijaz S.;
Ocampo‐Candiani, Jorge

Publication type:

Article

Recessive Bullous Dermolysis of the Newborn in Preterm Siblings with a Missense Mutation in Type VII Collagen.

Published in:

Pediatric Dermatology, 2015, v. 32, n. 2, p. e42, doi. 10.1111/pde.12513

By:

Boccaletti, Valeria;
Zambruno, Giovanna;
Castiglia, Daniele;
Magnani, Cinzia;
Tognetti, Elena;
Fabrizi, Giuseppe;
Cortelazzi, Chiara;
Pagliarello, Calogero;
Di Nuzzo, Sergio

Publication type:

Article

A novel missense mutation Q495K of SLC26A3 gene identified in a Chinese child with congenital chloride-losing diarrhoea.

Published in:

2017

By:

Guo, Hongmei;
Zheng, Bi‐Xia;
Jin, Yu;
Zheng, Bi-Xia

Publication type:

journal article

COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA.

Published in:

2017

By:

Jensson, Brynjar O.;
Hansdottir, Sif;
Arnadottir, Gudny A.;
Sulem, Gerald;
Kristjansson, Ragnar P.;
Oddsson, Asmundur;
Benonisdottir, Stefania;
Jonsson, Hakon;
Helgason, Agnar;
Saemundsdottir, Jona;
Magnusson, Olafur T.;
Masson, Gisli;
Thorisson, Gudmundur A.;
Jonasdottir, Adalbjorg;
Jonasdottir, Aslaug;
Sigurdsson, Asgeir;
Jonsdottir, Ingileif;
Petursdottir, Vigdis;
Kristinsson, Jon R.;
Gudbjartsson, Daniel F.

Publication type:

Case Study

Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.

Published in:

2017

By:

Arnadottir, Gudny A.;
Jensson, Brynjar O.;
Marelsson, Sigurdur E.;
Sulem, Gerald;
Oddsson, Asmundur;
Kristjansson, Ragnar P.;
Benonisdottir, Stefania;
Gudjonsson, Sigurjon A.;
Masson, Gisli;
Thorisson, Gudmundur A.;
Saemundsdottir, Jona;
Magnusson, Olafur Th.;
Jonasdottir, Adalbjorg;
Jonasdottir, Aslaug;
Sigurdsson, Asgeir;
Gudbjartsson, Daniel F.;
Thorsteinsdottir, Unnur;
Arngrimsson, Reynir;
Sulem, Patrick;
Stefansson, Kari

Publication type:

Case Study

Clinical phenotypes and radiological findings in frontotemporal dementia related to TARDBP mutations.

Published in:

Journal of Neurology, 2015, v. 262, n. 2, p. 375, doi. 10.1007/s00415-014-7575-5

By:

Floris, Gianluca;
Borghero, Giuseppe;
Cannas, Antonino;
Di Stefano, Francesca;
Murru, Maria;
Corongiu, Daniela;
Cuccu, Stefania;
Tranquilli, Stefania;
Cherchi, Maria;
Serra, Alessandra;
Loi, Gianluigi;
Marrosu, Maria;
Chiò, Adriano;
Marrosu, Francesco

Publication type:

Article

A de novo missense mutation in the NC1 domain of type VII collagen leads to dystrophic epidermolysis bullosa.

Published in:

2022

By:

Ping Cheng;
Yingda Wu;
Wanlu Zhang;
Yuanyuan Zhang;
Weixue Jia;
Chengrang Li

Publication type:

Case Study

Zn<sup>2+</sup> reverses functional deficits in a de novo dopamine transporter variant associated with autism spectrum disorder.

Published in:

Molecular Autism, 2015, v. 6, n. 1, p. 1, doi. 10.1186/S13229-015-0002-7

By:

Hamilton, Peter J.;
Shekar, Aparna;
Belovich, Andrea N.;
Christianson, Nicole Bibus;
Campbell, Nicholas G.;
Sutcliffe, James S.;
Galli, Aurelio;
Matthies, Heinrich J. G.;
Erreger, Kevin

Publication type:

Article

Different outcome of sarcoglycan missense mutation between human and mouse.

Published in:

PLoS ONE, 2018, v. 13, n. 1, p. 1, doi. 10.1371/journal.pone.0191274

By:

Henriques, Sara F.;
Patissier, Cécile;
Bourg, Nathalie;
Fecchio, Chiara;
Sandona, Doriana;
Marsolier, Justine;
Richard, Isabelle

Publication type:

Article

Novel mutation 928 G> C of MEN1 gene in a familial multiple endocrine neoplasia type 1 case ( MEN1) with co-existence of insulinoma and glucagonoma1名同时合并胰岛素瘤与胰高血糖素瘤的家族性多发性内分泌腺瘤1型（MEN1）患者的 MEN1基因出现了新的928G>C突变

Published in:

Journal of Diabetes, 2015, v. 7, n. 3, p. 426, doi. 10.1111/1753-0407.12199

By:

Chen, Xiang;
Sun, Shuyao;
Wang, Chun;
Chen, Dawei;
Chen, Huijiao;
Ran, Xingwu

Publication type:

Article

dSysMap: exploring the edgetic role of disease mutations.

Published in:

Nature Methods, 2015, v. 12, n. 3, p. 167, doi. 10.1038/nmeth.3289

By:

Mosca, Roberto;
Tenorio-Laranga, Jofre;
Olivella, Roger;
Alcalde, Victor;
Céol, Arnaud;
Soler-López, Montserrat;
Aloy, Patrick

Publication type:

Article

Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2017, v. 36, n. 11, p. 704, doi. 10.1080/15257770.2017.1395037

By:

Nguyen, Khue Vu;
Naviaux, Robert K.;
Nyhan, William L.

Publication type:

Article

Whole genome sequencing of Caribbean Hispanic families with late‐onset Alzheimer's disease.

Published in:

Annals of Clinical & Translational Neurology, 2018, v. 5, n. 4, p. 406, doi. 10.1002/acn3.537

By:

Vardarajan, Badri N.;
Barral, Sandra;
Jaworski, James;
Beecham, Gary W.;
Blue, Elizabeth;
Tosto, Giuseppe;
Reyes‐Dumeyer, Dolly;
Medrano, Martin;
Lantigua, Rafael;
Naj, Adam;
Thornton, Timothy;
DeStefano, Anita;
Martin, Eden;
Wang, Li‐San;
Brown, Lisa;
Bush, William;
van Duijn, Cornelia;
Goate, Allison;
Farrer, Lindsay;
Haines, Jonathan L.

Publication type:

Article

Two novel missense mutations in iron transport protein transferrin causing hypochromic microcytic anaemia and haemosiderosis: molecular characterization and structural implications.

Published in:

British Journal of Haematology, 2013, v. 163, n. 3, p. 404, doi. 10.1111/bjh.12487

By:

Athiyarath, Rekha;
Arora, Neeraj;
Fuster, Francisco;
Schwarzenbacher, Robert;
Ahmed, Rayaz;
George, Biju;
Chandy, Mammen;
Srivastava, Alok;
Rojas, Ana M.;
Sanchez, Mayka;
Edison, Eunice S.

Publication type:

Article

Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia.

Published in:

International Journal of Molecular Sciences, 2018, v. 19, n. 10, p. 3099, doi. 10.3390/ijms19103099

By:

Malekkou, Anna;
Samarani, Maura;
Drousiotou, Anthi;
Votsi, Christina;
Sonnino, Sandro;
Pantzaris, Marios;
Chiricozzi, Elena;
Zamba-Papanicolaou, Eleni;
Aureli, Massimo;
Loberto, Nicoletta;
Christodoulou, Kyproula

Publication type:

Article

Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome.

Published in:

International Journal of Molecular Sciences, 2018, v. 19, n. 1, p. 141, doi. 10.3390/ijms19010141

By:

Peng, Yunhui;
Myers, Rebecca;
Zhang, Wenxing;
Alexov, Emil

Publication type:

Article

SAAMBE:Webserver to Predict the Charge of Binding Free Energy Caused by Amino Acids Mutations.

Published in:

International Journal of Molecular Sciences, 2016, v. 17, n. 4, p. 547, doi. 10.3390/ijms17040547

By:

Petukh, Marharyta;
Luogeng Dai;
Alexov, Emil

Publication type:

Article

PRRT2 Mutations Are Related to Febrile Seizures in Epileptic Patients.

Published in:

International Journal of Molecular Sciences, 2014, v. 15, n. 12, p. 23408, doi. 10.3390/ijms151223408

By:

Zheng-Wen He;
Jian Qu;
Ying Zhang;
Chen-Xue Mao;
Zhi-Bin Wang;
Xiao-Yuan Mao;
Zhi-Yong Deng;
Bo-Ting Zhou;
Ji-Ye Yin;
Hong-Yu Long;
Bo Xiao;
Yu Zhang;
Hong-Hao Zhou;
Zhao-Qian Liu

Publication type:

Article

Further delineation of the KAT6B molecular and phenotypic spectrum.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1165, doi. 10.1038/ejhg.2014.248

By:

Gannon, Tamsin;
Perveen, Rahat;
Schlecht, Hélene;
Ramsden, Simon;
Anderson, Beverley;
Kerr, Bronwyn;
Day, Ruth;
Banka, Siddharth;
Suri, Mohnish;
Berland, Siren;
Gabbett, Michael;
Ma, Alan;
Lyonnet, Stan;
Cormier-Daire, Valerie;
Yilmaz, Rüstem;
Borck, Guntram;
Wieczorek, Dagmar;
Anderlid, Britt-Marie;
Smithson, Sarah;
Vogt, Julie

Publication type:

Article

Quantification of mutant E-cadherin using bioimaging analysis of in situ fluorescence microscopy. A new approach to CDH1 missense variants.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1072, doi. 10.1038/ejhg.2014.240

By:

Sanches, João Miguel;
Figueiredo, Joana;
Fonseca, Martina;
Durães, Cecília;
Melo, Soraia;
Esménio, Sofia;
Seruca, Raquel

Publication type:

Article

The dystrophin gene and cognitive function in the general population.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 837, doi. 10.1038/ejhg.2014.183

By:

Vojinovic, Dina;
Adams, Hieab HH;
van der Lee, Sven J;
Ibrahim-Verbaas, Carla A;
Brouwer, Rutger;
van den Hout, Mirjam CGN;
Oole, Edwin;
van Rooij, Jeroen;
Uitterlinden, Andre;
Hofman, Albert;
van IJcken, Wilfred FJ;
Aartsma-Rus, Annemieke;
van Ommen, GertJan B;
Ikram, M Arfan;
van Duijn, Cornelia M;
Amin, Najaf

Publication type:

Article

De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 5, p. 602, doi. 10.1038/ejhg.2014.150

By:

Popp, Bernt;
Støve, Svein I;
Endele, Sabine;
Myklebust, Line M;
Hoyer, Juliane;
Sticht, Heinrich;
Azzarello-Burri, Silvia;
Rauch, Anita;
Arnesen, Thomas;
Reis, André

Publication type:

Article

Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 5, p. 610, doi. 10.1038/ejhg.2014.162

By:

Klaassens, Merel;
Morrogh, Deborah;
Rosser, Elisabeth M;
Jaffer, Fatima;
Vreeburg, Maaike;
Bok, Levinus A;
Segboer, Tim;
van Belzen, Martine;
Quinlivan, Ros M;
Kumar, Ajith;
Hurst, Jane A;
Scott, Richard H

Publication type:

Article

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 5, p. 720, doi. 10.1038/ejhg.2014.278

By:

Kolanczyk, Mateusz;
Krawitz, Peter;
Hecht, Jochen;
Hupalowska, Anna;
Miaczynska, Marta;
Marschner, Katrin;
Schlack, Claire;
Emmerich, Denise;
Kobus, Karolina;
Kornak, Uwe;
Robinson, Peter N;
Plecko, Barbara;
Grangl, Gernot;
Uhrig, Sabine;
Mundlos, Stefan;
Horn, Denise

Publication type:

Article

Further confirmation of the MED13L haploinsufficiency syndrome.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 1, p. 135, doi. 10.1038/ejhg.2014.69

By:

van Haelst, Mieke M;
Monroe, Glen R;
Duran, Karen;
van Binsbergen, Ellen;
Breur, Johannes M;
Giltay, Jacques C;
van Haaften, Gijs

Publication type:

Article

Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 5, p. 535, doi. 10.1038/ejhg.2012.221

By:

Ben-Shachar, Shay;
Constantini, Shlomi;
Hallevi, Hen;
Sach, Emma K;
Upadhyaya, Meena;
Evans, Gareth D;
Huson, Susan M

Publication type:

Article

Molecular characterization of serous ovarian carcinoma using a multigene next generation sequencing cancer panel approach.

Published in:

BMC Research Notes, 2014, v. 7, n. 1, p. 1, doi. 10.1186/1756-0500-7-805

By:

Mutalib, Nurul-Syakima Ab;
Syafruddin, Saiful Effendi;
Md Zain, Reena Rahayu;
Mohd Dali, Ahmad Zailani;
Mohd Yunos, Ryia Illani;
Saidin, Sazuita;
Jamal, Rahman;
Mokhtar, Norfilza M.

Publication type:

Article

Acral peeling skin syndrome resulting from mutations in TGM5.

Published in:

Journal of the European Academy of Dermatology & Venereology, 2016, v. 30, n. 3, p. 477, doi. 10.1111/jdv.12863

By:

Cañueto, J.;
Bueno, E.;
Rodríguez ‐ Diaz, E.;
Vicente ‐ Díaz, M.A.;
Álvarez ‐ Cuesta, C.C.;
Gonzalvo ‐ Rodríguez, P.;
González ‐ Sarmiento, R.

Publication type:

Article

Hutchinson-Gilford progeria syndrome with scleroderma-like skin changes due to a homozygous missense LMNA mutation.

Published in:

Journal of the European Academy of Dermatology & Venereology, 2016, v. 30, n. 3, p. 463, doi. 10.1111/jdv.12840

By:

Zhang, S.;
Zhang, K.;
Jiang, M.;
Zhao, J.

Publication type:

Article

Rapid Detection of <i>DNMT3A</i> R882 Mutations in Hematologic Malignancies Using a Novel Bead-Based Suspension Assay with BNA(NC) Probes.

Published in:

PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0099769

By:

Shivarov, Velizar;
Ivanova, Milena;
Naumova, Elissaveta

Publication type:

Article

Identification of a novel B allele with a missense mutation (c.721C>G) in a Korean family with a weak B phenotype.

Published in:

2017

By:

Shin, Jae Gyun;
Song, Sae Am;
Jeong, So‐Young;
Lee, Ja Young;
Kim, Hye Ran;
Oh, Seung Hwan

Publication type:

journal article

A novel mutation for disseminated superficial actinic porokeratosis in the MVK gene.

Published in:

British Journal of Dermatology, 2014, v. 171, n. 2, p. 427, doi. 10.1111/bjd.12947

By:

Zhou, M.S.;
Xie, H.F.;
Chen, M.L.;
Jian, D.;
Liu, F.F.;
Chen, X.;
Shen, N.;
Si, N.;
Li, J.

Publication type:

Article

A Chinese girl with novel PLCE1 mutations and proliferation of the mesangium responded to tacrolimus therapy.

Published in:

Nephrology, 2014, v. 19, n. 3, p. 173, doi. 10.1111/nep.12178

By:

Lin, Tiantian;
Li, Jianguo;
Wang, Fenghua;
Cao, Li;
Wu, Jianxin;
Tu, Juan;
Ji, Lina;
Geng, Haiyun;
Chen, Chaoying;
Chen, Dakun

Publication type:

Article

Oculodentodigital Dysplasia Diagnosed from Severe Hypotrichosis.

Published in:

2019

By:

Tomoki TAKI;
Takuya TAKEICHI;
Kazumitsu SUGIURA;
Masashi AKIYAMA

Publication type:

Case Study

Darier's Disease Complicated by Schizophrenia Caused by a Novel ATP2A2 Mutation.

Published in:

2016

By:

Takuya Takeichi;
Kazumitsu Sugiura;
Yuki Nakamura;
Yumi Fujio;
Izumi Konohana;
Masashi Akiyama

Publication type:

Case Study

Significance of genetic variants in DLC1 and their association with hepatocellular carcinoma.

Published in:

Molecular Medicine Reports, 2015, v. 12, n. 3, p. 4203, doi. 10.3892/mmr.2015.3970

By:

CHENG-RONG XIE;
HONG-GUANG SUN;
YU SUN;
WEN-XIU ZHAO;
SHENG ZHANG;
XIAO-MIN WANG;
ZHEN-YU YIN

Publication type:

Article

ABI3 and PLCG2 missense variants as risk factors for neurodegenerative diseases in Caucasians and African Americans.

Published in:

Molecular Neurodegeneration, 2018, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13024-018-0289-x

By:

Conway, Olivia J;
Carrasquillo, Minerva M;
Wang, Xue;
Bredenberg, Jenny M;
Reddy, Joseph S;
Strickland, Samantha L;
Younkin, Curtis S;
Burgess, Jeremy D;
Allen, Mariet;
Lincoln, Sarah J;
Nguyen, Thuy;
Malphrus, Kimberly G;
Soto, Alexandra I;
Walton, Ronald L;
Boeve, Bradley F;
Petersen, Ronald C;
Lucas, John A;
Ferman, Tanis J;
Cheshire, William P;
van Gerpen, Jay A

Publication type:

Article