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Article

Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: study of 19 heterozygous and 2 homozygous patients.

Human mutation - 1 Jan 1997

Casals T, Pacheco P, Barreto C, Giménez J, Ramos M D, Pereira S, Pinheiro J A, Cobos N, Curvelo A, Vázquez C, Rocha H, Séculi J L, Pérez E, Dapena J, Carrilho E, Duarte A, Palacio A M, Nunes V, Lavinha J, Estivill X

Abstract excerpt

We report the clinical features of 21 unrelated cystic fibrosis (CF) patients from Portugal and Spain, who carry the mutation R1066C in the CFTR gene. The current age of the patients was higher in the R1066C/any mutation group (P < 0.01), as compared to the deltaF508/deltaF508 group. Poor values for lung radiological involvement (Chrispin-Norman) and general status (Shwachman-Kulcycki) were observed in the...

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Identifiers

PMID: 9375855
DOI: 10.1002/(SICI)1098-1004(1997)10:5<387::AID-HUMU9>3.0.CO;2-C

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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