Mild CF in a ΔF508/R347H compound heterozygote woman: does the manifestation of this genotype differ in the two sexes?
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1996.tb04338.x/fullpdf
Reference11 articles.
1. Identification of 12 novel mutations in the CFTR gene;Andrezet;Hum Molec Genet,1993
2. Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes;Chillón;Hum Genet,1994
3. Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes;Cremonesi;Hum Mutat,1992
4. Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens;Culard;Hum Genet,1994
5. Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients;Dean;Cell,1990
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1. Whole Exome Sequencing Identifies a Rare CFTR Mutation in Brothers With Anomalies of the Vas Deferens: A Case Study;Urology;2023-05
2. A 10-year large-scale cystic fibrosis carrier screening in the Italian population;Journal of Cystic Fibrosis;2010-01
3. Phenotypic Variability in a Family With Pancreatitis and Cystic Fibrosis Sharing Common Mild CFTR Mutation;Pancreas;2009-01
4. Diagnosis of atypical CF: A case-report to reflect;Journal of Cystic Fibrosis;2008-07
5. Severe cystic fibrosis associated with a AF508/R347H + D979A compound heterozygous genotype;Clinical Genetics;2008-06-28
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