French CF family genotype analysis shows that the R297Q mutation is a rare polymorphism
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference11 articles.
1. Analysis of 160 CF chromosomes: detection of a novel mutation in exon 20
2. 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
3. PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS BY DNA AMPLIFICATION FOR DETECTION OF KM-19 POLYMORPHISM
4. Polymerase chain reaction for detection of the pMP6d-9/MspI RFLP, a marker closely linked to the cystic fibrosis mutation
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1. Segregation analysis in cystic fibrosis at-risk family demonstrates that the M348K CFTR mutation is a rare innocuous polymorphism;Prenatal Diagnosis;2004
2. Involvement of CFTR Gene Alterations in Obstructive and Nonobstructive Infertility in Men;Genetic Testing;2001-09
3. Mutation and haplotype analysis of the CFTR gene in atypically mild cystic fibrosis patients from Northern Ireland;Journal of Medical Genetics;2001-02-01
4. Description of a symptomless cystic fibrosis L346P/M348K compound heterozygous Cypriot individual;Molecular and Cellular Probes;1996-08
5. An ovine CFTR variant as a putative cystic fibrosis causing mutation.;Journal of Medical Genetics;1996-07-01
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