Volume 9; Issue 6

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Human Mutation
Volume 9; Issue 6

Human Mutation

Volume 9; Issue 6

1

The clinical spectrum of type IV collagen mutations

Henny H. Lemmink, Cornelis H. Schröder, Leo A. H. Monnens, Huber J. M. Smeets

Journal:

Year:

1997

Language:

english

File:

PDF, 292 KB

english, 1997

2

Mutations in the adrenoleukodystrophy gene

Andrew Dodd, Shelley A. Rowland, Sheryl L. J. Hawkes, Martin A. Kennedy, Donald R. Love

Journal:

Year:

1997

Language:

english

File:

PDF, 182 KB

english, 1997

3

Nine novel L1 CAM mutations in families with X-linked hydrocephalus

John R. MacFarlane, Jian-Sheng Du, Miriam E. Pepys, Simon Ramsden, Dian Donnai, Ruth Charlton, Christine Garrett, John Tolmie, John R. W. Yates, Caroline Berry, David Goudie, Anne Moncla, Peter Lunt,

Journal:

Year:

1997

Language:

english

File:

PDF, 226 KB

english, 1997

4

DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient

Kyoko Takayama, David M. Danks, Edmund P. Salazar, James E. Cleaver, Christine A. Weber

Journal:

Year:

1997

Language:

english

File:

PDF, 289 KB

english, 1997

5

Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy

Karin Wulff, Julia E. Parrish, Falko H. Herrmann, Manfred Wehnert

Journal:

Year:

1997

Language:

english

File:

PDF, 150 KB

english, 1997

6

Screening for ESR mutations in breast and ovarian cancer patients

Tone Ikdahl Andersen, Richard Wooster, Kirsten Laake, Nadine Collins, William Warren, Martina Skrede, Rose Eeles, Kjell M. Tveit, Stephen R. D. Johnston, Mitchell Dowsett, Anne O. Olsen, Pål Møller, M

Journal:

Year:

1997

Language:

english

File:

PDF, 201 KB

english, 1997

7

Large majority of single-nucleotide mutations along the dystrophin gene can be explained by more than one mechanism of mutagenesis

Albena Todorova, Gian Antonio Danieli

Journal:

Year:

1997

Language:

english

File:

PDF, 203 KB

english, 1997

8

NF1 mutation analysis using a combined heteroduplex/SSCP approach

Corinne R. Abernathy, Sonja A. Rasmussen, Heather J. Stalker, Roberto Zori, Daniel J. Driscoll, Charles A. Williams, Boris G. Kousseff, Margaret R. Wallace

Journal:

Year:

1997

Language:

english

File:

PDF, 165 KB

english, 1997

9

Identification of two novel LDL receptor gene defects in French-Canadian pediatric population: Mutational analysis and biochemical studies

Linda Assouline, Eran Leitersdorf, Marie Lambert, Ayeleth Reshef, Juan C. Feoli-Fonseca, Emile Levy

Journal:

Year:

1997

Language:

english

File:

PDF, 252 KB

english, 1997

10

Facilitated diagnosis of CMT1A duplication in chromosome 17p11.2-12: Analysis with a CMT1A-REP repeat probe and photostimulated luminescence imaging

Tohru Ikegami, Hiroyuki Ikeda, Phillip F. Chance, Hidenori Kiyosawa, Masahiko Yamamoto, Gen Sobue, Akio Ohnishi, Nobutada Tachi, Kiyoshi Hayasaka

Journal:

Year:

1997

Language:

english

File:

PDF, 125 KB

english, 1997

11

An efficient and reliable multiplex PCR-SSCP mutation analysis test applied to the human E-cadherin gene

G Berx, F Nollet, K Strumane, F van Roy

Journal:

Year:

1997

Language:

english

File:

PDF, 229 KB

english, 1997

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