Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.

Nasr, S Z; Strong, T V; Mansoura, M K; Dawson, D C; Collins, F S

Nasr, S Z; Strong, T V; Mansoura, M K; Dawson, D C; Collins, F S.

Affiliation

Nasr SZ; Department of Pediatrics, University of Michigan, Ann Arbor 48109, USA.

Hum Mutat ; 7(2): 151-4, 1996.

Article in En | MEDLINE | ID: mdl-8829633

Subject(s)

Cystic Fibrosis Transmembrane Conductance Regulator/genetics; Cystic Fibrosis/genetics; Liver Failure/complications; Mutation; Adolescent; Animals; Base Sequence; Chlorides/metabolism; Cystic Fibrosis/complications; Cystic Fibrosis Transmembrane Conductance Regulator/metabolism; DNA Primers; Electrophysiology; Female; Gene Expression; Humans; Molecular Sequence Data; Oocytes; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Xenopus

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Collection: 01-internacional Database: MEDLINE Main subject: Liver Failure / Cystic Fibrosis Transmembrane Conductance Regulator / Cystic Fibrosis / Mutation Limits: Adolescent / Animals / Female / Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 1996 Document type: Article Affiliation country: United States Country of publication: United States

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