Detection of more than 91% cystic fibrosis mutations in a sample of the population from Reunion Island and identification of two novel mutations (A309G, S1255L) and one novel polymorphism (L49L)
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1998.tb03760.x/fullpdf
Reference6 articles.
1. A splicing mutation in intron 16 of the cystic fibrosis transmembrane conductance regulator gene, associated with severe disease, is common on Reunion Island;Bienvenu;Hum Hered,1996
2. Mutation heterogeneity of cystic fibrosis in France: screening by denaturing gradient gel electrophoresis using psoralen-modified oligonucleotide;Bienvenu;Hum Mutat,1995
3. Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance regulator (CFTR) coding regions and splice site junctions;Fanen;Genomics,1992
4. First report of CFTR mutations in black cystic fibrosis patients of Southern African origin;Carles;J Med Genet,1996
5. Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%;Macek;Am J Hum Genet,1997
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