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Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype.
Molecular Genetics Department, Hospital Duran i Reynals, Barcelona, Spain.
PMID: 7505694 [PubMed - indexed for MEDLINE]
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Cited by 2 PubMed Central articles
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Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation.
Vazquez C, Antiñolo G, Casals T, Dapena J, Elorz J, Seculi JL, Sirvent J, Cabanas R, Soler C, Estivill X.
J Med Genet. 1996 Oct; 33(10):820-2.
[J Med Genet. 1996]
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A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.
Chillón M, Dörk T, Casals T, Giménez J, Fonknechten N, Will K, Ramos D, Nunes V, Estivill X.
Am J Hum Genet. 1995 Mar; 56(3):623-9.
[Am J Hum Genet. 1995]