Volume 14; Issue 1

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Human Mutation
Volume 14; Issue 1

Human Mutation

Volume 14; Issue 1

1

IARC p53 mutation database: A relational database to compile and analyze p53 mutations in human tumors and cell lines

Tina Hernandez-Boussard, Patricia Rodriguez-Tome, Ruggero Montesano, Pierre Hainaut

Journal:

Year:

1999

Language:

english

File:

PDF, 252 KB

english, 1999

2

Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism

Benjamin Glaser, Judith Furth, Charles A. Stanley, Lester Baker, Paul S. Thornton, Heddy Landau, M. Alan Permutt

Journal:

Year:

1999

Language:

english

File:

PDF, 219 KB

english, 1999

3

Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency

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

Journal:

Year:

1999

Language:

english

File:

PDF, 324 KB

english, 1999

4

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:

1999

Language:

english

File:

PDF, 311 KB

english, 1999

5

Identification of a common PEX1 mutation in Zellweger syndrome

Cynthia S. Collins, Stephen J. Gould

Journal:

Year:

1999

Language:

english

File:

PDF, 391 KB

english, 1999

6

Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes

Vanessa Lemahieu, J.M. Gastier, Uta Francke

Journal:

Year:

1999

Language:

english

File:

PDF, 499 KB

english, 1999

7

No linkage of P187S polymorphism in NAD(P)H: Quinone oxidoreductase (NQO1/DIA4) and type 1 diabetes in the Danish population

Ole P. Kristiansen, Zenia M. Larsen, Jesper Johannesen, Jørn Nerup, Thomas Mandrup-Poulsen, Flemming Pociot

Journal:

Year:

1999

Language:

english

File:

PDF, 144 KB

english, 1999

8

A methylation PCR approach for detection of fragile X syndrome

Ioannis Panagopoulos, Carin Lassen, Ulf Kristoffersson, Pierre Åman

Journal:

Year:

1999

Language:

english

File:

PDF, 353 KB

english, 1999

9

Genotyping of the three major allelic variants of the human mannose-binding lectin gene by denaturing gradient gel electrophoresis

Martine Gabolde, Shanmugakonar Muralitharan, Claude Besmond

Journal:

Year:

1999

Language:

english

File:

PDF, 158 KB

english, 1999

10

WRN mutations in Werner Syndrome

Michael J. Moser, Junko Oshima, Raymond J. Monnat Jr.

Journal:

Year:

1999

Language:

english

File:

PDF, 56 KB

english, 1999

11

Corrigenda

Journal:

Year:

1999

Language:

english

File:

PDF, 44 KB

english, 1999

12

Identification of recurrent and novel mutations in the LDL receptor gene in Japanese familial hypercholesterolemia

Hiroaki Hattori, Makoto Nagano, Fujihiko Iwata, Yasuhiko Homma, Tohru Egashira, Tomoo Okada

Journal:

Year:

1999

Language:

english

File:

PDF, 19 KB

english, 1999

13

Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: Characterisation of 6 novel mutations

Catherine Hartog, Alan Fryer, Meena Upadhyaya

Journal:

Year:

1999

Language:

english

File:

PDF, 39 KB

english, 1999

14

Mutation analysis in patients with Wilson disease: Identification of 4 novel mutations

Regina Haas, Bertha Gutierrez-Rivero, Judith Knoche, Klaus Böker, Michael P. Manns, Hartmut H.-J. Schmidt

Journal:

Year:

1999

Language:

english

File:

PDF, 21 KB

english, 1999

15

Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C] in Spanish Gaucher disease patients

Alfonso J. Sarria, Pilar Giraldo, Juan I. Perez-Calvo, Miguel Pocoví

Journal:

Year:

1999

Language:

english

File:

PDF, 65 KB

english, 1999

16

Spectrum of CFTR mutations in the middle north of Spain and identification of a novel mutation (1341G→A)

J.J. Tellería, M.J. Alonso, C. Calvo, M. Alonso, A. Blanco

Journal:

Year:

1999

Language:

english

File:

PDF, 18 KB

english, 1999

17

Identification of novel mutations in the PCCB gene in European propionic acidemia patients

Silvia Muro, Pilar Rodríguez-Pombo, Belén Pérez, Celia Pérez-Cerdá, Lourdes R. Desviat, Wolfgang Sperl, Daniela Skladal, Jörn Oliver Sass, Magdalena Ugarte

Journal:

Year:

1999

Language:

english

File:

PDF, 42 KB

english, 1999

18

A summary of mutations in the UV-sensitive disorders: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy

James E. Cleaver, Larry H. Thompson, Audrey S. Richardson, J. Christopher States

Journal:

Year:

1999

Language:

english

File:

PDF, 393 KB

english, 1999

19

A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease

Naoya Sugiyama, Kyoko Suzuki, Takehiko Matsumura, Chiaki Kawanishi, Hideki Onishi, Yoshiteru Yamada, Eizo Iseki, Kenji Kosaka

Journal:

Year:

1999

Language:

english

File:

PDF, 17 KB

english, 1999

20

A novel frameshift mutation (141delT) in exon 1 of the 21-hydroxylase gene (CYP21) in a patient with the salt wasting form of congenital adrenal hyperplasia

Nils Krone, Andreas Braun, Adelbert Anton Roscher, Hans Peter Schwarz

Journal:

Year:

1999

Language:

english

File:

PDF, 349 KB

english, 1999

21

Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia

Pascale Trioche, Jeanne Francoual, Jacqueline Chalas, Liliane Capel, Olivier Bernard, Philippe Labrune

Journal:

Year:

1999

Language:

english

File:

PDF, 10 KB

english, 1999

22

Direct detection of common mutations in the familial Mediterranean fever gene (MEFV) using naturally occurring and primer mediated restriction fragment analysis

Ruth Gershoni-Baruch, Ilana Kepten, Marwan Shinawi, Riva Brik

Journal:

Year:

1999

Language:

english

File:

PDF, 16 KB

english, 1999

23

Strong founder effects in BRCA1 mutation carrier breast cancer patients from Latvia

Bela Csokay, Laima Tihomirova, Aivars Stengrevics, Olga Sinicka, Edith Olah

Journal:

Year:

1999

Language:

english

File:

PDF, 31 KB

english, 1999

24

Erratum: Different somatic and germline HPRT1 mutations promote use of a common, cryptic intron 1 splice site

Lorel M. Colgin, Alden F.M. Hackmann, Raymond J. Monnat Jr.

Journal:

Year:

1999

Language:

english

File:

PDF, 100 KB

english, 1999

25

A novel intragenetic PVUII marker in the human neuronal nicotinic acetylcholine receptor a4 subunit gene (CHRNA4)

Hiromi Iwata, Shinichi Hirose, Hidetaka Akiyoshi, Sunao Kaneko, Akihisa Mitsudome

Journal:

Year:

1999

Language:

english

File:

PDF, 13 KB

english, 1999

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