Volume 21; Issue 6

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Human Mutation
Volume 21; Issue 6

Human Mutation

Volume 21; Issue 6

1

Single base substitutions at the initiator codon in the mitochondrial acetoacetyl-CoA thiolase (ACAT1/T2) gene result in production of varying amounts of wild-type T2 polypeptide

Toshiyuki Fukao, Naoki Matsuo, Gai Xiu Zhang, Rintaro Urasawa, Tetsuo Kubo, Yoshinori Kohno, Naomi Kondo

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 184 KB

english, 2003

2

Cultured fibroblasts as a tool for improvement of molecular analysis in ornithine transcarbamylase (OTC) deficiency

Johannes Häberle, Hans Georg Koch

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 59 KB

english, 2003

3

Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to β-subunit mutations

Ute Spiekerkoetter, Bin Sun, Zaza Khuchua, Michael J. Bennett, Arnold W. Strauss

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 241 KB

english, 2003

4

Human Gene Mutation Database (HGMD®): 2003 update

Peter D. Stenson, Edward V. Ball, Matthew Mort, Andrew D. Phillips, Jacqueline A. Shiel, Nick S.T. Thomas, Shaun Abeysinghe, Michael Krawczak, David N. Cooper

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 112 KB

english, 2003

5

Variations of the human glucocorticoid receptor gene (NR3C1): Pathological and in vitro mutations and polymorphisms

Paula J. Bray, Richard G.H. Cotton

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 224 KB

english, 2003

6

Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy

Sylvie Tuffery-Giraud, Céline Saquet, Sylvie Chambert, Mireille Claustres

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 6.17 MB

english, 2003

7

Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay

Alessia Colosimo, Valentina Guida, Luciana Rigoli, Chiara Di Bella, Alessandro De Luca, Silvana Briuglia, Liborio Stuppia, Damiano Carmelo Salpietro, Bruno Dallapiccola

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 214 KB

english, 2003

8

Mutation analysis in patients with N-acetylglutamate synthase deficiency

Johannes Häberle, Eva Schmidt, Silke Pauli, Joachim Gerhard Kreuder, Barbara Plecko, Axel Galler, Benedicht Wermuth, Erik Harms, Hans Georg Koch

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 133 KB

english, 2003

9

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy

Lieve Claes, Berten Ceulemans, Dominique Audenaert, Katrien Smets, Ann Löfgren, Jurgen Del-Favero, Sirpa Ala-Mello, Lina Basel-Vanagaite, Barbara Plecko, Salmo Raskin, Paul Thiry, Nicole I. Wolf, Chri

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 141 KB

english, 2003

10

An ABCA4 genomic deletion in patients with Stargardt disease

Alexander N. Yatsenko, Noah F. Shroyer, Richard A. Lewis, James R. Lupski

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 243 KB

english, 2003

11

A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity

P. Jagiello, C. Hammans, S. Wieczorek, L. Arning, A. Stefanski, H. Strehl, J.T. Epplen, M. Gencik

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 321 KB

english, 2003

12

A multiplex methylation PCR assay for identification of uniparental disomy of chromosome 7

Mathew W. Moore, Lisa G. Dietz, Budi Tirtorahardjo, Philip D. Cotter

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 118 KB

english, 2003

13

Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH

Jochen Reiss, Jean L. Johnson

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 284 KB

english, 2003

14

Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy

Paule Bénit, Réjane Beugnot, Dominique Chretien, Irina Giurgea, Pascale De Lonlay-Debeney, Jean-Paul Issartel, Marisol Corral-Debrinski, Stefan Kerscher, Pierre Rustin, Agnès Rötig, Arnold Munnich

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 140 KB

english, 2003

15

Incorrect headers and abstracts in Human Mutation, Volume 21, Issue 1, January 2003

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 47 KB

english, 2003

16

Loss of a single amino acid from dystrophin resulting in Duchenne muscular dystrophy with retention of dystrophin protein

Kristin Becker, Stephanie A. Robb, Zandra Hatton, Shu Ching Yau, Stephen Abbs, Roland G. Roberts

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 150 KB

english, 2003

17

Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: Different incidences in familial and sporadic disease

Eric Schulze-Bahr, Lars Eckardt, Günter Breithardt, Karlheinz Seidl, Thomas Wichter, Christian Wolpert, Martin Borggrefe, Wilhelm Haverkamp

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 120 KB

english, 2003

18

Alleles of polymorphic sites that correspond to hyperactive variants of CYP1B1 protein are significantly less frequent in Japanese as compared to American and German populations

Masahiro Sasaki, Yuichiro Tanaka, Masanori Kaneuchi, Noriaki Sakuragi, Rajvir Dahiya

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 123 KB

english, 2003

19

Identification of variants in NFKBIA and association analysis with hepatocellular carcinoma risk among chronic HBV patients

Lyoung Hyo Kim, Hyoung Doo Shin, Byung Lae Park, Ji Hyun Jung, Jun Yeun Kim, Yoon Jun Kim, Hyo-Suk Lee

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 160 KB

english, 2003

20

Single nucleotide polymorphisms and haplotype frequencies of CYP3A5 in a Japanese population

Mayumi Saeki, Yoshiro Saito, Takahiro Nakamura, Norie Murayama, Su-Ryang Kim, Shogo Ozawa, Kazuo Komamura, Kazuyuki Ueno, Shiro Kamakura, Toshiharu Nakajima, Hirohisa Saito, Yutaka Kitamura, Naoyuki K

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 61 KB

english, 2003

21

Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast-ovarian cancer family

Sophie Gad, Ivan Bièche, Michel Barrois, Federica Casilli, Sabine Pages-Berhouet, Catherine Dehainault, Marion Gauthier-Villars, Aaron Bensimon, Alain Aurias, Rosette Lidereau, Brigitte Bressac-de Pai

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 173 KB

english, 2003

22

A Novel PTPN11 mutation in LEOPARD syndrome

E. Conti, T. Dottorini, A. Sarkozy, G. E. Tiller, G. Esposito, A. Pizzuti, B. Dallapiccola

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 157 KB

english, 2003

23

Identification of four novel melanocortin 1 receptor (MC1R) gene variants in a Mediterranean population

Maria Concetta Fargnoli, Sergio Chimenti, Gisela Keller, Heinz Höfler, Ketty Peris

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 33 KB

english, 2003

24

The mutation spectrum of the APC gene in FAP patients from southern Italy: Detection of known and four novel mutations

Marina De Rosa, Maria I. Scarano, Luigi Panariello, Gemma Morelli, Gabriele Riegler, Giovanni B. Rossi, Alfonso Tempesta, Giovanni Romano, Andrea Renda, Guido Pettinato, Paola Izzo

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 43 KB

english, 2003

25

Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy

Olivier Baris, Cécile Delettre, Patrizia Amati-Bonneau, Marie-Odile Surget, Jean-François Charlin, Antoine Catier, Laurence Derieux, Jean-Laurent Guyomard, Hélène Dollfus, Philippe Jonveaux, Carmen Ay

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 45 KB

english, 2003