A new missense mutation (E92K) in the first transm...[Hum Mol Genet. 1993] - PubMed Result

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1: Hum Mol Genet. 1993 Jan;2(1):79-80. Links

A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype.

Nunes V, Chillón M, Dörk T, Tümmler B, Casals T, Estivill X.

Molecular Genetics Department, Hospital Duran i Reynals, Barcelona, Spain.

PMID: 7683954 [PubMed - indexed for MEDLINE]

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Cited by 4 PubMed Central articles

Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation.
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[J Med Genet. 1996]
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Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.
Morral N, Llevadot R, Casals T, Gasparini P, Macek M Jr, Dörk T, Estivill X. Am J Hum Genet. 1994 Nov; 55(5):890-8.

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