Mutation heterogeneity of cystic fibrosis in France: Screening by denaturing gradient gel electrophoresis using psoralen-modified oligonucleotide
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference37 articles.
1. Identification of 12 novel mutations in the CFTR gene
2. Identification of a new frameshift mutation (3724 delG) in exon 19 of the CFTR gene
3. A new missense mutation (G27E) in exon 2 of the CFTR gene in a mildly affected cystic fibrosis patient
4. A missense mutation (F87L) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene
5. Unexpected inactivation of acceptor consensus splice sequence by a −3 C to T transition in intron 2 of the CFTR gene
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4. 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);Clinical Genetics;2008-06-28
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