Molecular characterization of cystic fibrosis: 16 Novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions-Reference-Cited by-同舟云学术

Molecular characterization of cystic fibrosis: 16 Novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions

Published:1992-07 Issue:3 Volume:13 Page:770-776
ISSN:0888-7543
Container-title:Genomics
language:en
Short-container-title:Genomics

Author:

Fanen Pascale,Ghanem Nada,Vidaud Michel,Besmond Claude,Martin Josiane,Costes Bruno,Plassa Francois,Goossens Michel

Publisher

Elsevier BV

Subject

Genetics

Reference27 articles.

1. Demonstration that CFTR is a chloride channel by alteration of its anion selectivity;Anderson;Science,1991

2. Mutations in the catalytic domain of human coagulation factor IX: Rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior;Attree;Geromics,1989

3. A dimorphic 4-bp repeat in the cystic fibrosis gene is in absolute linkage disequilibrium with the ΔF508 mutation: Implications for prenatal diagnosis and mutation origin;Chehab;Am. J. Hum. Genet.,1991

4. Phosphorylation of the R domain by cAMP-dependent protein kinase regulates the CFTR chloride channel;Cheng;Cell,1991

5. A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein;Cutting;Nature,1990

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