Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Strong, T V; Smit, L S; Nasr, S; Wood, D L; Cole, J L; Iannuzzi, M C; Stern, R C; Collins, F S

Strong, T V; Smit, L S; Nasr, S; Wood, D L; Cole, J L; Iannuzzi, M C; Stern, R C; Collins, F S.

Affiliation

Strong TV; Department of Human Genetics, University of Michigan, Ann Arbor 48109-0650.

Hum Mutat ; 1(5): 380-7, 1992.

Article in En | MEDLINE | ID: mdl-1284540

Subject(s)

Cystic Fibrosis/genetics; Membrane Proteins/genetics; Adult; Amino Acid Sequence; Base Sequence; Child; Cystic Fibrosis Transmembrane Conductance Regulator; DNA/genetics; DNA Mutational Analysis; Female; Humans; Introns; Male; Molecular Sequence Data; Polymerase Chain Reaction; RNA Splicing/genetics; RNA, Messenger/genetics

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Database: MEDLINE Main subject: Cystic Fibrosis / Membrane Proteins Type of study: Prognostic_studies Limits: Adult / Child / Female / Humans / Male Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 1992 Type: Article

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