Identification of three novel mutations in the CFTR gene, R117P, ΔD192, and 3121-1G→A in four French patients
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference15 articles.
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4. 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;Fanen;Genomics,1992
5. Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients;Ferec;Mol Cell Probe,1995
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Mutation spectrum in Jewish cystic fibrosis patients in Israel: Implication to carrier screening;American Journal of Medical Genetics Part A;2005
2. R117H and IVS8-5T Cystic Fibrosis Mutation Detection by Restriction Enzyme Digestion;Molecular Diagnosis;2000-09
3. Évaluation analytique et clinique du kit de détection des mutations du gène CFTR CF(12)m PCRTM;Immuno-analyse & Biologie Spécialisée;1998-07
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