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

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 ΔF508/ΔF508 group. Poor values for lung...

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Veröffentlicht in:	Human mutation 1997, Vol.10 (5), p.387-392
Hauptverfasser:	Casals, T, Pacheco, P, Barreto, C, Giménez, J, Ramos, MD, Pereira, S, Pinheiro, JA, Cobos, N, Curvelo, A, Vázquez, C, Rocha, H, Séculi, JL, Pérez, E, Dapena, J, Carrilho, E, Duarte, A, Palacio, AM, Nunes, V, Lavinha, J, Estivill, X
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Child Child, Preschool cystic fibrosis Cystic Fibrosis - genetics Cystic Fibrosis Transmembrane Conductance Regulator - genetics DNA, Satellite Female genotype/phenotype correlation Heterozygote Homozygote Humans Infant Male Mutation Pedigree Phenotype R1066C mutation
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