Volume 11; Issue 4

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Human Mutation
Volume 11; Issue 4

Human Mutation

Volume 11; Issue 4

1

In vitro mutations in dihydrofolate reductase that confer resistance to methotrexate: Potential for clinical application

Raymond L. Blakley, Brian P. Sorrentino

Journal:

Year:

1998

Language:

english

File:

PDF, 130 KB

english, 1998

2

Common ancestral mutations in the MEN1 gene is likely responsible for the prolactinoma variant of MEN1 (MEN1Burin) in four kindreds from Newfoundland

Shodimu-Emmanuel Olufemi, Jane S. Green, Pachiappan Manickam, Siradanahalli C. Guru, Sunita K. Agarwal, Mary Beth Kester, Qihan Dong, A. Lee Burns, Allen M. Spiegel, Stephen J. Marx, Francis S. Collin

Journal:

Year:

1998

Language:

english

File:

PDF, 252 KB

english, 1998

3

Seven novel mutations in mut methylmalonic aciduria

Charles E. Adjalla, Angela R. Hosack, Brian M. Gilfix, Estelle Lamothe, Sophie Sun, Adrian Chan, Stacey Evans, Nora V. Matiaszuk, David S. Rosenblatt

Journal:

Year:

1998

Language:

english

File:

PDF, 140 KB

english, 1998

4

Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease

Eun Kyung Kim, Ook Joon Yoo, Kyu Young Song, Han Wook Yoo, Sang Yong Choi, Sung Won Cho, Si Houn Hahn

Journal:

Year:

1998

Language:

english

File:

PDF, 168 KB

english, 1998

5

Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex

Laura D. Corden, Jemima E. Mellerio, Matthew J. Gratian, Robin A. J. Eady, John I. Harper, Marc Lacour, Gareth Magee, E. Birgitte Lane, John A. McGrath, W. H. Irwin McLean

Journal:

Year:

1998

Language:

english

File:

PDF, 304 KB

english, 1998

6

Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles

Carol J. Gallione, Daniel J. Klaus, Eric Y. Yeh, Timothy T. Stenzel, Yan Xue, Kara B. Anthony, Kimberly A. McAllister, Melanie A. Baldwin, Jonathan N. Berg, Andreas Lux, Joshua D. Smith, Calvin P. H.

Journal:

Year:

1998

Language:

english

File:

PDF, 214 KB

english, 1998

7

Molecular analysis and clinical findings in the Spanish Gaucher disease population: Putative haplotype of the N370S ancestral chromosome

Bru Cormand, Daniel Grinberg, Laura Gort, Amparo Chabás, Lluïsa Vilageliu

Journal:

Year:

1998

Language:

english

File:

PDF, 227 KB

english, 1998

8

Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: Evidence for a founder effect

Jeng-Jer Shieh, Ching-Yuang Lin

Journal:

Year:

1998

Language:

english

File:

PDF, 152 KB

english, 1998

9

Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations

Paola Di Natale, Nicola Balzano, Sabrina Esposito, Guglielmo R. D. Villani

Journal:

Year:

1998

Language:

english

File:

PDF, 220 KB

english, 1998

10

Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene

Pia Höglund, Siru Haila, Karl-Henrik Gustavson, Mikko Taipale, Katariina Hannula, Kataryna Popinska, Christer Holmberg, Jerzy Socha, Albert de la Chapelle, Juha Kere

Journal:

Year:

1998

Language:

english

File:

PDF, 201 KB

english, 1998

11

Identification of a novel point mutation (S65T) in α-galactosidase A gene in Chinese patients with Fabry disease

Chia-Hsiang Chen, Pei-Wen Shyu, Su-Jen Wu, Song-Shan Sheu, Robert J. Desnick, Kwang-Jen Hsiao

Journal:

Year:

1998

Language:

english

File:

PDF, 125 KB

english, 1998

12

A novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia

Noriyuki Katsumata, Ayako Tanae, Takashi Shinagawa, Atsuko Nagashima-Miyokawa, Mayumi Shimizu, Toru Yasunaga, Toshiaki Tanaka, Itsuro Hibi

Journal:

Year:

1998

Language:

english

File:

PDF, 30 KB

english, 1998

13

Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita

F Sangiuolo, A Botta, A Mesoraca, S Servidei, L Merlini, G Fratta, G Novelli, B Dallapiccola

Journal:

Year:

1998

Language:

english

File:

PDF, 143 KB

english, 1998

14

Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients

Q Wang, S Verhoef, AMP Tempelaars, PLG Bakker, R Vrtel, ALW Hesseling-Janssen,, M Nellist, AP Oranje, H Stroink, D Lindhout, DJJ Halley, AMW van den Ouweland

Journal:

Year:

1998

Language:

english

File:

PDF, 94 KB

english, 1998

15

Mutational analysis of the cystathionine β-synthase gene: A splicing mutation, two missense mutations and an insertion in patients with homocystinuria

Ross B. Gordon, Anthony J. Cox, Paul A. Dawson, Bryan T. Emmerson, Jan P. Kraus, Nicholas P. B. Dudman

Journal:

Year:

1998

Language:

english

File:

PDF, 132 KB

english, 1998

16

Analysis of five mutations in 20 mucopolysaccharidosis type I patients: High prevalence of the W402X mutation

Laura Gort, Amparo Chabás, M. Josep Coll

Journal:

Year:

1998

Language:

english

File:

PDF, 27 KB

english, 1998

17

A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia

G Grigelioniené, L Hagenäs, O Eklöf, L Neumeyer, PE Haereid, M Anvret

Journal:

Year:

1998

Language:

english

File:

PDF, 117 KB

english, 1998

18

Detection of four novel mutations in the iduronate-2-sulfatase gene

Nicola Balzano, Guglielmo R. D. Villani, Michela Grosso, Paola Izzo, Paola Di Natale

Journal:

Year:

1998

Language:

english

File:

PDF, 63 KB

english, 1998

19

Polymorphisms in the coding exons of the human luteinizing hormone receptor gene

Shao-Ming Wu, Maria Jose, Karen Hallermeier, Owen M. Rennert, Wai-Yee Chan

Journal:

Year:

1998

Language:

english

File:

PDF, 136 KB

english, 1998

20

A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy

Andrew Donnelly, Eric Haan, James Manson, John Mulley

Journal:

Year:

1998

Language:

english

File:

PDF, 62 KB

english, 1998

21

Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophilia A with different phenotypes

Bimal D. M. Theophilus, Mohammad S. Enayat, Miyoko Higuchi, Haig H. Kazazian, Stylianos E. Antonarakis, Frank G. H. Hill

Journal:

Year:

1998

Language:

english

File:

PDF, 58 KB

english, 1998

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