Volume 15; Issue 5

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Human Mutation
Volume 15; Issue 5

Human Mutation

Volume 15; Issue 5

1

MTM1 mutations in X-linked myotubular myopathy

Jocelyn Laporte, Valérie Biancalana, Stephan M. Tanner, Wolfram Kress, Vreni Schneider, Carina Wallgren-Pettersson, Franziska Herger, Anna Buj-Bello, François Blondeau, Sabina Liechti-Gallati, Jean-Lo

Journal:

Year:

2000

Language:

english

File:

PDF, 427 KB

english, 2000

2

Ryanodine receptor mutations in malignant hyperthermia and central core disease

Tommie V. McCarthy, Kathleen A. Quane, Patrick J. Lynch

Journal:

Year:

2000

Language:

english

File:

PDF, 259 KB

english, 2000

3

RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems

Robert M.W. Hofstra, Ying Wu, Rein P. Stulp, Peter Elfferich, Jan Osinga, Saskia M. Maas, Liesbeth Siderius, Alice S. Brooks, Jenneke J. vd Ende, Vera M.R. Heydendael, René S.V.M. Severijnen, Klaas M.

Journal:

Year:

2000

Language:

english

File:

PDF, 379 KB

english, 2000

4

Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: Identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping

Hiroh Watanabe, Kenji E. Orii, Toshiyuki Fukao, Xiang-Qian Song, Toshifumi Aoyama, Lodewijk IJlst, Jos Ruiter, Ronald J.A. Wanders, Naomi Kondo

Journal:

Year:

2000

Language:

english

File:

PDF, 343 KB

english, 2000

5

Russian mutational spectrum differs from that of their Western counterparts

John Curry, Magomed Khaidakov, Barry W. Glickman

Journal:

Year:

2000

Language:

english

File:

PDF, 217 KB

english, 2000

6

Novel mutations in 13 probands with galactokinase deficiency

V. Kolosha, E. Anoia, C. de Cespedes, R. Gitzelmann, L. Shih, T. Casco, M. Saborio, R. Trejos, N. Buist, T. Tedesco, W. Skach, O. Mitelmann, D. Ledee, K. Huang, D. Stambolian

Journal:

Year:

2000

Language:

english

File:

PDF, 242 KB

english, 2000

7

Mutational analysis of ATP7B and genotype–phenotype correlation in Japanese with Wilson's disease

Toshihide Okada, Yuta Shiono, Hisao Hayashi, Hiro Satoh, Takeshi Sawada, Ayako Suzuki, Yasuo Takeda, Motoyoshi Yano, Kojiro Michitaka, Morikazu Onji, Hiroshi Mabuchi

Journal:

Year:

2000

Language:

english

File:

PDF, 286 KB

english, 2000

8

Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in the PROS1 gene: Identification of seven novel mutations and three novel, apparently neutral, variants

Yolanda Espinosa-Parrilla, Marta Morell, Montserrat Borrell, Joan Carles Souto, Jordi Fontcuberta, Xavier Estivill, Núria Sala

Journal:

Year:

2000

Language:

english

File:

PDF, 448 KB

english, 2000

9

Detection of novel NF2 mutations by an RNA mismatch cleavage method

Rodolfo Faudoa, Zhu Xue, Frank Lee, Michael E. Baser, Gene Hung

Journal:

Year:

2000

Language:

english

File:

PDF, 179 KB

english, 2000

10

C283Y mutation and other C-terminal nucleotide changes in the γ-sarcoglycan gene in the Bulgarian Gypsy population

Albena Todorova, Angel Ashikov, Olga Beltcheva, Ivailo Tournev, Ivo Kremensky

Journal:

Year:

2000

Language:

english

File:

PDF, 60 KB

english, 2000

11

Mutations in the human TWIST gene

Karen W. Gripp, Elaine H. Zackai, Catherine A. Stolle

Journal:

Year:

2000

Language:

english

File:

PDF, 59 KB

english, 2000

12

Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria: Report of four novel mutations

Franco Martinez di Montemuros, Elena Di Pierro, Silvia Fargion, Gianfranco Biolcati, Daniela Griso, Annelisa Macrì, Gemino Fiorelli, Maria Domenica Cappellini

Journal:

Year:

2000

Language:

english

File:

PDF, 55 KB

english, 2000

13

Founder BRCA1 mutations and two novel germline BRCA2 mutations in breast and/or ovarian cancer families from North-Eastern Poland

Marco van der Looij, Barbara Wysocka, Izabela Brozek, Jacek Jassem, Janusz Limon, Edith Olah

Journal:

Year:

2000

Language:

english

File:

PDF, 30 KB

english, 2000

14

Characterization of the CYP21 gene 5′ flanking region in patients affected by 21-OH deficiency

A. Bobba, E. Marra, P. Lattanzio, A. Iolascon, S. Giannattasio

Journal:

Year:

2000

Language:

english

File:

PDF, 118 KB

english, 2000

15

Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene

Núria López-Bigas, Raquel Rabionet, Elisabeth Martínez, Isabel Banchs, Víctor Volpini, Jeffery M. Vance, Maria Lourdes Arbonés, Xavier Estivill

Journal:

Year:

2000

Language:

english

File:

PDF, 16 KB

english, 2000

16

Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype

Katell Peoc'h, Philippe Manivet, Patrice Beaudry, Françoise Attane, Gérard Besson, Didier Hannequin, Nicole Delasnerie-Lauprêtre, Jean-Louis Laplanche

Journal:

Year:

2000

Language:

english

File:

PDF, 49 KB

english, 2000

17

Detection of point mutations of BCL10 gene in hepatocellular carcinoma tissues: Report of 46 cases

Cheng Jihua, Leng Xisheng, Cai Shengli, Cao Zongxian, Cao Guang, Du Ruyu

Journal:

Year:

2000

Language:

english

File:

PDF, 16 KB

english, 2000

18

Analysis of the human KCNH2(HERG) gene: Identification and characterization of a novel mutation Y667X associated with long QT syndrome and a non-pathological 9 bp insertion

Aimée Paulussen, Ping Yang, Menelas Pangalos, Peter Verhasselt, Roger Marrannes, Christel Verfaille, Ine Vandenberk, Raf Crabbe, Frank Konings, Walter Luyten, Martin Armstrong

Journal:

Year:

2000

Language:

english

File:

PDF, 30 KB

english, 2000

19

Mutation analysis in 36 unrelated Spanish subjects with familial hypercholesterolemia: Identification of 3 novel mutations in the LDL receptor gene

Pilar Mozas, Ana Cenarro, Fernando Civeira, Sergio Castillo, Emilio Ros, Miguel Pocovi

Journal:

Year:

2000

Language:

english

File:

PDF, 39 KB

english, 2000

20

Severe cystic fibrosis in a Japanese girl caused by two novel CFTR (ABCC7) gene mutations: M152R and 1540del10

Nasa Morokawa, Sayoko Iizuka, Akihide Tanano, Atsushi Katsube, Toshihiro Muraji, Yoshikatsu Eto, Kunihiko Yoshimura

Journal:

Year:

2000

Language:

english

File:

PDF, 13 KB

english, 2000

21

A new BRCA1 germline mutation (E879X) in a Malaysian breast cancer patient of Chinese descent

A.S.B. Khoo, P. Balraj, L. Volpi, S. Nair

Journal:

Year:

2000

Language:

english

File:

PDF, 9 KB

english, 2000

22

A novel missense mutation (D110E) in exon 4 of CFTR (ABCC7) in a CF infant presenting with hypochloraemic metabolic alkalosis

Rita Padoan, Alessandra Bassotti, Manuela Seia, Antonella Ambrosioni, Sabrina Fiori, Silvia Prandoni, Angelo Cantù Rajnoldi, Annamaria Giunta, Carlo Corbetta

Journal:

Year:

2000

Language:

english

File:

PDF, 12 KB

english, 2000

23

Two novel polymorphisms, c1086T>C and c1798C>T, in the MADH4/DPC4 gene

Patrick S. Moore, Gildas Rigaud, Antonella Baron, Aldo Scarpa

Journal:

Year:

2000

Language:

english

File:

PDF, 9 KB

english, 2000

24

Identification of a IVS4 -58delATG polymorphism in the human phosphomannomutase 2 (PMM2) gene

Sandrine Vuillaumier-Barrot, Christiane Le Bizec, Geneviève Durand, Bernard Grandchamp, Nathalie Seta

Journal:

Year:

2000

Language:

english

File:

PDF, 11 KB

english, 2000

25

A novel missense mutation (Y89C) in exon 3 of the CFTR (ABCC7) gene in a young male

Rita Padoan, Diana Costantini, Maria Chiara Russo, Antonella Ambrosioni, Sabrina Fiori, Silvia Prandoni, Angelo Cantù-Rajnoldi, Manuela Seia, Annamaria Giunta

Journal:

Year:

2000

Language:

english

File:

PDF, 11 KB

english, 2000

26

A new polymorphism (N21D) in the exon 2 of the human MDR1 gene encoding the P-glycoprotein

Xavier Declèves, Sylvie Chevillard, Charlotte Charpentier, Philippe Vielh, Jean-Louis Laplanche

Journal:

Year:

2000

Language:

english

File:

PDF, 11 KB

english, 2000

27

Three novel somatic mutations in the NF2 tumor suppressor gene [g816T>A; g1159A>G; gIVS11-1G>T]

César Paz-y-Miño, Paola E. Leone

Journal:

Year:

2000

Language:

english

File:

PDF, 13 KB

english, 2000

28

Two novel mutations in the WASP gene in Wiskott-Aldrich patients of Chile origin: W64R and A124E

Cristina Fillat, Teresa Español, Marta Oset, Mirta Cavieres, Patricia dal Borgo, Xavier Estivill, Victor Volpini

Journal:

Year:

2000

Language:

english

File:

PDF, 13 KB

english, 2000

29

Novel intronic polymorphism (+1675G/A) in the human angiotensin II subtype 2 receptor gene

Jeanette Erdmann, Marco Guse, Heike Kallisch, Eckart Fleck, Vera Regitz-Zagrosek

Journal:

Year:

2000

Language:

english

File:

PDF, 12 KB

english, 2000

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