title: Three novel mutations in the CFTR gene identified in Galician patients.
abstract: 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.
authors.affiliation: Fundacion Publica Galega de Medicina Xenomica, Grupo de Medicina Xenómica, CIBERER, Santiago de Compostela, 15706 Spain.
authors.forename: P
authors.initials: P
authors.lastname: Rana-Díez
authors.forename: C
authors.initials: C
authors.lastname: Colón
authors.forename: J R
authors.initials: JR
authors.lastname: Alonso-Fernández
authors.forename: A
authors.initials: A
authors.lastname: Solar
authors.forename: J C
authors.initials: JC
authors.lastname: Barros-Tizón
authors.forename: D
authors.initials: D
authors.lastname: Barros-Casas
authors.forename: J
authors.initials: J
authors.lastname: Sirvent
authors.forename: A
authors.initials: A
authors.lastname: Carracedo
authors.forename: F
authors.initials: F
authors.lastname: Barros
mesh_terms: D000293:Adolescent; D000328:Adult; D003550:Cystic Fibrosis / Q000150:complications / Q000235:genetics* / Q000473:pathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D013030:Spain
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator