Volume 9; Issue 4

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Human Mutation
Volume 9; Issue 4

Human Mutation

Volume 9; Issue 4

1

Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: Overview

Maryse St-Louis, Robert M. Tanguay

Journal:

Year:

1997

Language:

english

File:

PDF, 194 KB

english, 1997

2

Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels

Helena Kuivaniemi, Gerard Tromp, Darwin J. Prockop

Journal:

Year:

1997

Language:

english

File:

PDF, 218 KB

english, 1997

3

Prediction of multiple hypermutable codons in the human PAH gene: Codon 280 contains recurrent mutations in Quebec and other populations

Susan Byck, Linda Tyfield, Kevin Carter, Charles R. Scriver

Journal:

Year:

1997

Language:

english

File:

PDF, 202 KB

english, 1997

4

Mutations in the XPD gene leading to xeroderma pigmentosum symptoms

Takehiro Kobayashi, Isao Kuraoka, Masafumi Saijo, Yoshimichi Nakatsu, Akemi Tanaka, Yukiko Someda, Shuhei Fukuro, Kiyoji Tanaka

Journal:

Year:

1997

Language:

english

File:

PDF, 279 KB

english, 1997

5

Identification of a splice site mutation (2789+5 G>A) associated with small amounts of normal CFTRmRNA and mild cystic fibrosis

W. Edward Highsmith Jr., Lauranell H. Burch, Zhaoqing Zhou, John C. Olsen, Theresa V. Strong, Terry Smith, Kenneth J. Friedman, Lawrence M. Silverman, Richard C. Boucher, Francis S. Collins, Michael R

Journal:

Year:

1997

Language:

english

File:

PDF, 210 KB

english, 1997

6

Detection of mutations in multi-exon genes: Comparison of conformation sensitive gel electrophoresis and sequencing strategies with respect to cost and time for finding mutations

Arupa Ganguly, Charlene Williams

Journal:

Year:

1997

Language:

english

File:

PDF, 137 KB

english, 1997

7

δ-Thalassemic phenotype due to two “novel” δ-globin gene mutations: CD11[GTC → GGC (A8)-HbA2-pylos] and CD 85 [TTT → TCT (F1)-HbA2-etolia]

Olga Drakoulakou, Elisavet Papapanagiotou, Afrodite Loutradi-Anagnostou, Manoussos Papadakis

Journal:

Year:

1997

Language:

english

File:

PDF, 160 KB

english, 1997

8

Single-step DGGE-based mutation scanning of the p53 gene: Application to genetic diagnosis of colorectal cancer

Per Guldberg, Trine Nedergaard, Hans Jørgen Nielsen, Anna Catharina Olsen, Vibeke Ahrenkiel, Jesper Zeuthen

Journal:

Year:

1997

Language:

english

File:

PDF, 206 KB

english, 1997

9

Novel G16S (GGC-AGC) mutation in the SOD-1 gene in a patient with apparently sporadic young-onset amyotrophic lateral sclerosis

Jun Kawamata, Shun Shimohama, Shin Takano, Kiyoshi Harada, Kunihiro Ueda, Jun Kimura

Journal:

Year:

1997

Language:

english

File:

PDF, 116 KB

english, 1997

10

Three novel fibrillin mutations in exons 25 and 27: Classic versus neonatal Marfan syndrome

Mei Wang, Ji-Yi Wang, Jason Cisler, Kiyoshi Imaizumi, Barbara K. Burton, Marilyn C. Jones, John J. Lamberti, Maurice Godfrey

Journal:

Year:

1997

Language:

english

File:

PDF, 139 KB

english, 1997

11

Novel nonsense mutation (W302X) in the steroid 21-hydroxylase gene of a Finnish patient with the salt-wasting form of congenital adrenal hyperplasia

Antii Levo, Jukka Partanen

Journal:

Year:

1997

Language:

english

File:

PDF, 105 KB

english, 1997

12

Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene

J Hudson, CL Wu, M Tassabehji, EM Summers, S Simon, M Super, D Donnai, N Thakker

Journal:

Year:

1997

Language:

english

File:

PDF, 70 KB

english, 1997

13

Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and ΔM1140

Christine Clavel, François Pennaforte, Frédérique Pigeon, Claudine Verlingue, Philippe Birembaut, Claude Férec

Journal:

Year:

1997

Language:

english

File:

PDF, 98 KB

english, 1997

14

Characterization of 19 novel and six recurring APC mutations in Italian adenomatous polyposis patients, using two different mutation detection techniques

Viviana Gismondi, Anna Bafico, Roberta Biticchi, Simona Pedemonte, Francesco Molina, Abdelhamid Heouaine, Paola Sala, Lucio Bertario, Silvano Presciuttini, Paolo Strigini, Joanna Groden, Liliana Vares

Journal:

Year:

1997

Language:

english

File:

PDF, 125 KB

english, 1997

15

New evidence for a mutation hotspot in exon 37 of the NF1 gene

Annett Böddrich, Peter N. Robinson, Markus Schülke, Annegret Buske, Sigrid Tinschert, Peter Nürnberg

Journal:

Year:

1997

Language:

english

File:

PDF, 132 KB

english, 1997

16

Serine for glycine substitutions in the C-terminal third of the α1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta

Allan M. Lund, Flemming Skovby, Marianne Schwartz

Journal:

Year:

1997

Language:

english

File:

PDF, 192 KB

english, 1997

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