A novel stop mutation in exon 18 (W1145X) of the CFTR (ABCC7) gene in an adult CF patient.

Seia, M; Cantù-Rajnoldi, A; Ambrosioni, A; Fiori, S; Bassotti, A; Pizzamiglio, G; Giunta, A; Padoan, R

Seia, M; Cantù-Rajnoldi, A; Ambrosioni, A; Fiori, S; Bassotti, A; Pizzamiglio, G; Giunta, A; Padoan, R.

Affiliation

Seia M; Dipartimento Medicina di Laboratorio, Settore di Genetica Molecolare, AO Istituti Clinici di Perfezionamento, Milano, Italy.

Hum Mutat ; 16(6): 532-3, 2000 Dec.

Article in En | MEDLINE | ID: mdl-11102992

Subject(s)

Amino Acid Substitution/genetics; Cystic Fibrosis Transmembrane Conductance Regulator/genetics; Cystic Fibrosis/genetics; Exons/genetics; Mutation, Missense/genetics; Tryptophan; Adolescent; Adult; Child, Preschool; Exocrine Pancreatic Insufficiency/genetics; Humans; Male; Phenotype; Pneumonia, Bacterial/genetics; Staphylococcal Infections/genetics; Tryptophan/genetics

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Collection: 01-internacional Database: MEDLINE Main subject: Tryptophan / Exons / Cystic Fibrosis Transmembrane Conductance Regulator / Amino Acid Substitution / Mutation, Missense / Cystic Fibrosis Limits: Adolescent / Adult / Child, preschool / Humans / Male Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2000 Document type: Article Affiliation country: Italy Country of publication: United States

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