Works matching DE "HUMAN missense mutation"
Results: 54
A novel homozygous missense mutation in the factor VII gene of severe factor VII deficiency in a pedigree: a description of two cases.
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- Haemophilia, 2013, v. 19, n. 5, p. e298, doi. 10.1111/hae.12176
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- Article
A Chinese girl with novel PLCE1 mutations and proliferation of the mesangium responded to tacrolimus therapy.
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- Nephrology, 2014, v. 19, n. 3, p. 173, doi. 10.1111/nep.12178
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- Article
Molecular characterization of serous ovarian carcinoma using a multigene next generation sequencing cancer panel approach.
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- BMC Research Notes, 2014, v. 7, n. 1, p. 1, doi. 10.1186/1756-0500-7-805
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- Article
dSysMap: exploring the edgetic role of disease mutations.
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- Nature Methods, 2015, v. 12, n. 3, p. 167, doi. 10.1038/nmeth.3289
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- Article
Identification of four novel mutations of the WFS1 gene in Iranian Wolfram syndrome pedigrees.
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- Acta Diabetologica, 2016, v. 53, n. 6, p. 899, doi. 10.1007/s00592-016-0884-7
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- Article
Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis.
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- Human Genetics, 2015, v. 134, n. 6, p. 671, doi. 10.1007/s00439-015-1548-3
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- Article
GATA1 gene variants associated with thrombocytopenia and anemia.
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- Platelets, 2017, v. 28, n. 7, p. 731, doi. 10.1080/09537104.2017.1361525
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- Article
Acral peeling skin syndrome resulting from mutations in TGM5.
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- Journal of the European Academy of Dermatology & Venereology, 2016, v. 30, n. 3, p. 477, doi. 10.1111/jdv.12863
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- Article
Hutchinson-Gilford progeria syndrome with scleroderma-like skin changes due to a homozygous missense LMNA mutation.
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- Journal of the European Academy of Dermatology & Venereology, 2016, v. 30, n. 3, p. 463, doi. 10.1111/jdv.12840
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- Article
Oculodentodigital Dysplasia Diagnosed from Severe Hypotrichosis.
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- 2019
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- Case Study
Darier's Disease Complicated by Schizophrenia Caused by a Novel ATP2A2 Mutation.
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- 2016
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- Case Study
Acute encephalopathy in Dravet syndrome: Case reports and literature review.
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- 2016
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- Case Study
Inherited CARD9 Deficiency in 2 Unrelated Patients With Invasive Exophiala Infection.
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- 2015
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- Case Study
Two novel missense mutations in iron transport protein transferrin causing hypochromic microcytic anaemia and haemosiderosis: molecular characterization and structural implications.
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- British Journal of Haematology, 2013, v. 163, n. 3, p. 404, doi. 10.1111/bjh.12487
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- Article
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.
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- Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0224-0
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- Article
Computational study of missense mutations in phenylalanine hydroxylase.
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- Journal of Molecular Modeling, 2015, v. 21, n. 4, p. 1, doi. 10.1007/s00894-015-2620-6
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- Article
A novel missense mutation in collagenous domain of EDA gene in a Chinese family with X-linked hypohidrotic ectodermal dysplasia.
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- Journal of Genetics, 2015, v. 94, n. 1, p. 115, doi. 10.1007/s12041-015-0474-4
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- Article
Genetic study in a suspected case of Schöpf-Schulz-Passarge syndrome.
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- 2015
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- Case Study
Further delineation of the KAT6B molecular and phenotypic spectrum.
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- European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1165, doi. 10.1038/ejhg.2014.248
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- Article
Quantification of mutant E-cadherin using bioimaging analysis of in situ fluorescence microscopy. A new approach to CDH1 missense variants.
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- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1072, doi. 10.1038/ejhg.2014.240
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- Article
The dystrophin gene and cognitive function in the general population.
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- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 837, doi. 10.1038/ejhg.2014.183
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- Article
De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 602, doi. 10.1038/ejhg.2014.150
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- Article
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 610, doi. 10.1038/ejhg.2014.162
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- Article
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 720, doi. 10.1038/ejhg.2014.278
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- Article
Further confirmation of the MED13L haploinsufficiency syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 135, doi. 10.1038/ejhg.2014.69
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- Article
Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.
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- European Journal of Human Genetics, 2013, v. 21, n. 5, p. 535, doi. 10.1038/ejhg.2012.221
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- Article
X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene.
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- 2015
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- Publication type:
- Case Study
ABI3 and PLCG2 missense variants as risk factors for neurodegenerative diseases in Caucasians and African Americans.
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- Molecular Neurodegeneration, 2018, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13024-018-0289-x
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- Article
Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease.
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- Nucleosides, Nucleotides & Nucleic Acids, 2017, v. 36, n. 11, p. 704, doi. 10.1080/15257770.2017.1395037
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- Article
A novel mutation for disseminated superficial actinic porokeratosis in the MVK gene.
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- British Journal of Dermatology, 2014, v. 171, n. 2, p. 427, doi. 10.1111/bjd.12947
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- Article
No Evidence for Pathogenic Role of UBQLN2 Mutations in Sporadic Amyotrophic Lateral Sclerosis in the Mainland Chinese Population.
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- PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0170943
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- 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
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- Journal of Diabetes, 2015, v. 7, n. 3, p. 426, doi. 10.1111/1753-0407.12199
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- Article
Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia.
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- International Journal of Molecular Sciences, 2018, v. 19, n. 10, p. 3099, doi. 10.3390/ijms19103099
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- Article
Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome.
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- International Journal of Molecular Sciences, 2018, v. 19, n. 1, p. 141, doi. 10.3390/ijms19010141
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- Article
SAAMBE:Webserver to Predict the Charge of Binding Free Energy Caused by Amino Acids Mutations.
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- International Journal of Molecular Sciences, 2016, v. 17, n. 4, p. 547, doi. 10.3390/ijms17040547
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- Article
PRRT2 Mutations Are Related to Febrile Seizures in Epileptic Patients.
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- International Journal of Molecular Sciences, 2014, v. 15, n. 12, p. 23408, doi. 10.3390/ijms151223408
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- Article
COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA.
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- 2017
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- Publication type:
- Case Study
Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.
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- 2017
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- Publication type:
- Case Study
The keratin 16 null phenotype is modestly impacted by genetic strain background in mice.
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- Experimental Dermatology, 2018, v. 27, n. 6, p. 672, doi. 10.1111/exd.13509
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- Article
p63-dependent and independent mechanisms of nectin-1 and nectin-4 regulation in the epidermis.
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- Experimental Dermatology, 2015, v. 24, n. 2, p. 114, doi. 10.1111/exd.12593
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- Article
A de novo missense mutation in the NC1 domain of type VII collagen leads to dystrophic epidermolysis bullosa.
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- 2022
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- Case Study
CAMKIIγ, HSP70 and HSP90 transcripts are differentially expressed in chronic myeloid leukemia cells from patients with resistant mutated disease.
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- Leukemia & Lymphoma, 2014, v. 55, n. 9, p. 2101, doi. 10.3109/10428194.2013.861070
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- Article
Clinical phenotypes and radiological findings in frontotemporal dementia related to TARDBP mutations.
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- Journal of Neurology, 2015, v. 262, n. 2, p. 375, doi. 10.1007/s00415-014-7575-5
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- Article
A NOTCH4 missense mutation confers resistance to multiple sclerosis in Japanese.
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- Multiple Sclerosis Journal, 2013, v. 19, n. 13, p. 1696, doi. 10.1177/1352458513482512
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- Article
Zn<sup>2+</sup> reverses functional deficits in a de novo dopamine transporter variant associated with autism spectrum disorder.
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- Molecular Autism, 2015, v. 6, n. 1, p. 1, doi. 10.1186/S13229-015-0002-7
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- Article
Different outcome of sarcoglycan missense mutation between human and mouse.
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- PLoS ONE, 2018, v. 13, n. 1, p. 1, doi. 10.1371/journal.pone.0191274
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- Article
A novel missense mutation Q495K of SLC26A3 gene identified in a Chinese child with congenital chloride-losing diarrhoea.
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- 2017
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- Publication type:
- journal article
A variant RhAG protein encoded by the RHAG*572A allele causes serological weak D expression while maintaining normal RhCE phenotypes.
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- Transfusion, 2019, v. 59, n. 1, p. 405, doi. 10.1111/trf.14969
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- Article
Identification of a novel B allele with a missense mutation (c.721C>G) in a Korean family with a weak B phenotype.
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- 2017
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- Publication type:
- journal article
Whole genome sequencing of Caribbean Hispanic families with late‐onset Alzheimer's disease.
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- Annals of Clinical & Translational Neurology, 2018, v. 5, n. 4, p. 406, doi. 10.1002/acn3.537
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- Article