Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign-Reference-Cited by-同舟云学术

Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign

Published:2004-01 Issue:1 Volume:74 Page:176-179
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Groman Joshua D.,Hefferon Timothy W.,Casals Teresa,Bassas Lluís,Estivill Xavier,Des Georges Marie,Guittard Caroline,Koudova Monika,Fallin M. Daniele,Nemeth Krisztina,Fekete Gyorgy,Kadasi Ludovit,Friedman Ken,Schwarz Martin,Bombieri Cristina,Pignatti Pier Franco,Kanavakis Emmanuel,Tzetis Maria,Schwartz Marianne,Novelli Giuseppe,D’Apice Maria Rosaria,Sobczynska-Tomaszewska Agnieszka,Bal Jerzy,Stuhrmann Manfred,Macek Milan,Claustres Mireille,Cutting Garry R.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference10 articles.

1. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens;Chillón;N Engl J Med,1995

2. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA;Chu;Nat Genet,1993

3. Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes: the polymorphic (TG)m locus explains the partial penetrance of the 5T polymorphism as a disease mutation;Cuppens;J Clin Invest,1998

4. Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD;de Meeus;J Med Genet,1998

5. Hefferon TW, Groman JD, Yurk CE, Cutting GR. A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing. Proc Natl Acad Sci USA (in press)

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