Volume 12; Issue 2

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Human Mutation
Volume 12; Issue 2

Human Mutation

Volume 12; Issue 2

1

Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein

JC States, ER McDuffie, SP Myrand, M McDowell, JE Cleaver

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 514 KB

english, 1998

2

Arginine 302 mutations in the pyruvate dehydrogenase E1α subunit gene: Identification of further patients and in vitro demonstration of pathogenicity

Lucy J. Otero, Ruth M. Brown, Garry K. Brown

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 409 KB

english, 1998

3

Exons – Introns = Lexons: In-frame concatenation of exons by PCR

Thérèse M. F. Tuohy, Joanna Groden

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 324 KB

english, 1998

4

A new set of primers for mutation analysis of the human PAX6 gene

James Love, Richard Axton, Amanda Churchill, Veronica van Heyningen, Isabel Hanson

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 357 KB

english, 1998

5

Novel compound heterozygous laminina2-chain gene (LAMA2) mutations in congenital muscular dystrophy

Joshua T. Mendell, Shirly G. Panicker, Chang-Yong Tsao, Bo Feng, Zarife Sahenk, George A. Marzluf, Jerry R. Mendell

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 282 KB

english, 1998

6

Transthyretin Ile73Val is associated with familial amyloidotic polyneuropathy in a Bangladeshi family

DR Booth, JD Gillmore, MR Persey, SE Booth, KD Cafferty, GA Tennent, S Madhoo, SW Cochrane, TC Whitehead, G Pasvol, PN Hawkins

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 84 KB

english, 1998

7

A nonsense mutation (R242X) in the branched-chain α-keto acid dehydrogenase E1α subunit gene (BCKDHA) as a cause of maple syrup urine disease

Jeffrey Chinsky, Melissa Appel, Shlomo Almashanu, Paul Costeas, Nicholas Ambulos Jr., Rivka Carmi

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 136 KB

english, 1998

8

Niemann Pick disease type A in Israeli Arabs: 677delT, a common novel single mutation

Iris Gluck, Marsha Zeigler, Ruth Bargal, Elena Schiff, Gideon Bach

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 44 KB

english, 1998

9

Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY)

Barbara Guazzini, Davide Gaffi, Davide Mainieri, Giuseppe Multari, Renzo Cordera, Stefano Bertolini, Guido Pozza, Franco Meschi, Fabrizio Barbetti

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 30 KB

english, 1998

10

A novel mutation in the neonatal region of the fibrillin (FBN) 1 gene associated with a classical phenotype of Marfan syndrome (MfS)

Ulrich Grau, Hanns-Georg Klein, Christian Detter, Helmut Mair, Armin Welz, Dietrich Seidel, Bruno Reichart

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 71 KB

english, 1998

11

Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia

Daniel J. Klaus, Carol J. Gallione, Kara Anthony, Eric Y. Yeh, Jing Yu, Andreas Lux, David W. Johnson, Douglas A. Marchuk

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 47 KB

english, 1998

12

C112R, W323S, N317K mutations in the vasopressin V2 receptor gene in patients with nephrogenic diabetes insipidus

Csaba Szalai, Dimitra Triga, Antal Czinner

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 24 KB

english, 1998

13

Identification of a new heterozygous point mutation in the COL1A2 gene leading to skipping of exon 9 in a patient with joint laxity, hyperextensibility of skin and blue sclerae

Sergej Feshchenko, Jürgen Brinckmann, Hartwig W. Lehmann, Hans-Georg Koch, Peter K. Müller, Sebastian Kügler

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 52 KB

english, 1998

14

Identification of novel PAX6 mutations in two families with bilateral aniridia

Martin Neuner-Jehle, Francis Munier, Alexandra Kobetz, Iman Sahly, Yves Uteza, André Mermoud, Daniel F. Schorderet, Jean-Louis Dufier, Marc Abitbol

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 158 KB

english, 1998

15

A novel homozygous nonsense mutation E135* in the type II 3β-hydroxysteroid dehydrogenase gene in a girl with salt-losing congenital adrenal hyperplasia

Suemi Marui, Isabel M. Torrealba, Alan J. Russell, Ana C. Latronico, Roger G. Sutcliffe, Berenice B. Mendonca

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 80 KB

english, 1998

16

Analysis of recurrent germline mutations in the MEN1 gene encountered in apparently unrelated families

Sunita K. Agarwal, Larisa V. Debelenko, Mary Beth Kester, Siradanahalli C. Guru, Pachiappan Manickam, Shodimu-Emmanuel Olufemi, Monica C. Skarulis, Christina Heppner, Judy S. Crabtree, Irina A. Lubens

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 442 KB

english, 1998

17

Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: Two pathogenic mutations, V133E and C456F, in Japanese siblings

Xiang-Qian Song, Toshiyuki Fukao, Hiroh Watanabe, Haruo Shintaku, Ken Hirayama, Sacha Kassovska-Bratinova, Naomi Kondo, Grant A. Mitchell

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 412 KB

english, 1998

18

Further delineation of the molecular pathology of Wilson disease in the Mediterranean population

Georgios Loudianos, Valeria Dessì, Mario Lovicu, Andrea Angius, Annamaria Nurchi, Giacomo Carlo Sturniolo, Matilde Marcellini, Lucia Zancan, Patrizia Bragetti, Nejat Akar, Rasit Yagci, Angela Vegnente

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 246 KB

english, 1998

19

Effects of a 9.6-kb deletion of the LDL receptor gene (FH Helsinki) on structure and levels of mRNA

Olaug K. Rødningen, Serena Tonstad, Leiv Ose, Kåre Berg, Trond P. Leren

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 409 KB

english, 1998