Three novel mutations in the CFTR gene identified in Galician patients

We report three novel CFTR missense mutations detected in Spanish patients from Galicia (North West of Spain). In the first case, a patient homozygous for a novel S1045Y mutation died due to pulmonary problems. In the other two cases, both heterozygous for novel mutations combined with the F508del m...

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Published inJournal of cystic fibrosis Vol. 7; no. 6; pp. 520 - 522
Main Authors Rana-Díez, P., Colón, C., Alonso-Fernández, J.R., Solar, A., Barros-Tizón, J.C., Barros-Casas, D., Sirvent, J., Carracedo, A., Barros, F.
Format Journal Article
LanguageEnglish
Published Netherlands Elsevier B.V 01.11.2008
Subjects
Adolescent
Adult
CFTR
Cystic fibrosis
Cystic Fibrosis - complications
Cystic Fibrosis - genetics
Cystic Fibrosis - pathology
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
Exons - genetics
Female
Galicia
Humans
Male
Mutation
Mutation, Missense - genetics
Pulmonary/Respiratory
Spain
Spain
Cystic fibrosis
Mutation
CFTR
Galicia
Spain
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ISSN1569-1993
1873-5010
DOI10.1016/j.jcf.2008.05.009

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Summary:We report three novel CFTR missense mutations detected in Spanish patients from Galicia (North West of Spain). In the first case, a patient homozygous for a novel S1045Y mutation died due to pulmonary problems. In the other two cases, both heterozygous for novel mutations combined with the F508del mutation, clinical symptoms were different depending on the mutation, detected as M595I and A107V.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
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ObjectType-Report-1
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ISSN:1569-1993
1873-5010
DOI:10.1016/j.jcf.2008.05.009