Works matching IS 10597794 AND DT 2002 AND VI 19 AND IP 3

Results: 22

Structure, genomic DNA typing, and kinetic characterization of the D allozyme of placental alkaline phosphatase (PLAP/ALPP).

Published in:

Human Mutation, 2002, v. 19, n. 3, p. 258, doi. 10.1002/humu.10052

By:

Wennberg, Charlotte;
Kozlenkov, Alexey;
Di Mauro, Sonia;
Fröhlander, Nils;
Beckman, Lars;
Hoylaerts, Marc F.;
Millán, José Luis

Publication type:

Article

Mutation detection in the duplicated region of the polycystic kidney disease 1 ( PKD1) gene in PKD1-linked Australian families.

Published in:

Human Mutation, 2002, v. 19, n. 3, p. 240, doi. 10.1002/humu.10045

By:

McCluskey, Marie;
Schiavello, Tina;
Hunter, Michael;
Hantke, Janina;
Angelicheva, Dora;
Bogdanova, Nadja;
Markoff, Arseni;
Thomas, Mark;
Dworniczak, Bernd;
Horst, Juergen;
Kalaydjieva, Luba

Publication type:

Article

The identification and classification of 41 novel mutations in the factor VIII gene (F8C).

Published in:

Human Mutation, 2002, v. 19, n. 3, p. 274, doi. 10.1002/humu.10056

By:

Cutler, J.A.;
Mitchell, M.J.;
Smith, M.P.;
Savidge, G.F.

Publication type:

Article

Erratum: Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.

Published in:

Human Mutation, 2002, v. 19, n. 3, p. 311, doi. 10.1002/humu.9022

By:

Kuhrová, Viera;
Francová, Hana;
Zapletalová, Petra;
Freiberger, Tomáš;
Fajkusová, Lenka;
Hrabincová, Eva;
Slováčková, Romana;
Kozák, Libor

Publication type:

Article

Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.

Published in:

Human Mutation, 2002, v. 19, n. 3, p. 268, doi. 10.1002/humu.10049

By:

von Brederlow, Benigna;
Bolz, Hanno;
Janecke, Andreas;
La O Cabrera, Alicia;
Rudolph, Günther;
Lorenz, Birgit;
Schwinger, Eberhard;
Gal, Andreas

Publication type:

Article

Recurrent BRCA1 and BRCA2 germline mutations in ovarian cancer: A founder mutation of BRCA1 identified in the Chinese population.

Published in:

Human Mutation, 2002, v. 19, n. 3, p. 307, doi. 10.1002/humu.9015

By:

Khoo, Ui-Soon;
Chan, Kelvin Y.K.;
Cheung, Annie N.Y.;
Xue, W.C.;
Shen, D.H.;
Fung, K.Y.;
Ngan, Hextan Y.S.;
Choy, K.W.;
Pang, C.P.;
Poon, C.S.P.;
Poon, A.Y.A.;
Ozcelik, Hilmi

Publication type:

Article

Co-existence of frataxin and cardiac troponin T gene mutations in a child with Friedreich Ataxia and familial hypertrophic cardiomyopathy.

Published in:

Human Mutation, 2002, v. 19, n. 3, p. 309, doi. 10.1002/humu.9019

By:

Cuda, Giovanni;
Mussari, Andrea;
Concolino, Daniela;
Costanzo, Francesco S.;
Strisciuglio, Pietro

Publication type:

Article

A new strategy for mannose-binding lectin gene haplotyping.

Published in:

Human Mutation, 2002, v. 19, n. 3, p. 296, doi. 10.1002/humu.10051

By:

Boldt, Angelica Beate Winter;
Petzl-Erler, Maria Luiza

Publication type:

Article

HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server.

Published in:

Human Mutation, 2002, v. 19, n. 3, p. 225, doi. 10.1002/humu.10044

By:

Hardison, Ross C.;
Chui, David H.K.;
Giardine, Belinda;
Riemer, Cathy;
Patrinos, George P.;
Anagnou, Nicholas;
Miller, Webb;
Wajcman, Henri

Publication type:

Article

G6PD db, an integrated database of glucose-6-phosphate dehydrogenase (G6PD) mutations.

Published in:

Human Mutation, 2002, v. 19, n. 3, p. 217, doi. 10.1002/humu.10036

By:

Kwok, Colin J.;
Martin, Andrew C.R.;
Au, Shannon W.N.;
Lam, Veronica M.S.

Publication type:

Article

Low frequency of recurrent BRCA1 and BRCA2 mutations in Spain.

Published in:

Human Mutation, 2002, v. 19, n. 3, p. 307, doi. 10.1002/humu.9014

By:

Llort, Gemma;
Muñoz, Carmen Yagüe;
Tuser, Mercè Peris;
Guillermo, Ignacio Blanco;
Lluch, José Ramón Germà;
Bale, Allen E.;
Franco, Mayra Alvarez

Publication type:

Article

NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.

Published in:

Human Mutation, 2002, v. 19, n. 3, p. 309, doi. 10.1002/humu.9018

By:

Kluwe, Lan;
Friedrich, Reinhard E.;
Korf, Bruce;
Fahsold, Raimund;
Mautner, Victor-F.

Publication type:

Article

The A8296G mtDNA mutation associated with several mitochondrial diseases does not cause mitochondrial dysfunction in cybrid cell lines.

Published in:

Human Mutation, 2002, v. 19, n. 3, p. 234, doi. 10.1002/humu.10050

By:

Bornstein, Belén;
Mas, Jose Antonio;
Fernández-Moreno, Miguel Angel;
Campos, Yolanda;
Martín, Miguel Angel;
del Hoyo, Pilar;
Rubio, Juan Carlos;
Arenas, Joaquín;
Garesse, Rafael

Publication type:

Article

Mutations in the RUNX2 gene in patients with cleidocranial dysplasia.

Published in:

Human Mutation, 2002, v. 19, n. 3, p. 209, doi. 10.1002/humu.10043

By:

Otto, Florian;
Kanegane, Hirokazu;
Mundlos, Stefan

Publication type:

Article

Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort.

Published in:

Human Mutation, 2002, v. 19, n. 3, p. 311, doi. 10.1002/humu.9021

By:

Bunn, Caroline F.;
Lintott, Caroline J.;
Scott, Russell S.;
George, Peter M.

Publication type:

Article

Molecular study of the hydroxymethlybilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria.

Published in:

Human Mutation, 2002, v. 19, n. 3, p. 310, doi. 10.1002/humu.9020

By:

Gregor, Anita;
Schneider-Yin, Xiaoye;
Szlendak, Urszula;
Wettstein, Albert;
Lipniacka, Agnieszka;
Rüfenacht, Urszula B.;
Minder, Elisabeth I.

Publication type:

Article

Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism.

Published in:

Human Mutation, 2002, v. 19, n. 3, p. 308, doi. 10.1002/humu.9016

By:

Mangino, M.;
Flex, E.;
Digilio, M.C.;
Giannotti, A.;
Dallapiccola, B.

Publication type:

Article

Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients.

Published in:

Human Mutation, 2002, v. 19, n. 3, p. 308, doi. 10.1002/humu.9017

By:

Kupka, Susan;
Tóth, Tímea;
Wróbel, Maciej;
Zeißler, Ulrike;
Szyfter, Witold;
Szyfter, Krzysztof;
Niedzielska, Grazyna;
Bal, Jerzy;
Zenner, Hans-Peter;
Sziklai, István;
Blin, Nikolaus;
Pfister, Markus

Publication type:

Article

A modified multiplex PCR assay for detection of large deletions in MSH2 and MLH1.

Published in:

Human Mutation, 2002, v. 19, n. 3, p. 279, doi. 10.1002/humu.10042

By:

Wang, Yaping;
Friedl, Waltraut;
Sengteller, Marlies;
Jungck, Matthias;
Filges, Isabel;
Propping, Peter;
Mangold, Elisabeth

Publication type:

Article

Differential occurrence of mutations causative of eye diseases in the Chinese population.

Published in:

Human Mutation, 2002, v. 19, n. 3, p. 189, doi. 10.1002/humu.10053

By:

Pang, Chi Pui;
Lam, Dennis Shun Chiu

Publication type:

Article

Reliability of DHPLC in mutational screening of β-globin (HBB) alleles.

Published in:

Human Mutation, 2002, v. 19, n. 3, p. 287, doi. 10.1002/humu.10046

By:

Colosimo, Alessia;
Guida, Valentina;
De Luca, Alessandro;
Cappabianca, Maria Pia;
Bianco, Ida;
Palka, Giandomenico;
Dallapiccola, Bruno

Publication type:

Article

Identification of 33 polymorphisms in the adipocyte-derived leucine aminopeptidase ( ALAP) gene and possible association with hypertension.

Published in:

Human Mutation, 2002, v. 19, n. 3, p. 251, doi. 10.1002/humu.10047

By:

Yamamoto, Nao;
Nakayama, Junko;
Yamakawa-Kobayashi, Kimiko;
Hamaguchi, Hideo;
Miyazaki, Ryunosuke;
Arinami, Tadao

Publication type:

Article