An African-American cystic fibrosis patient homozygous for a novel frameshift mutation associated with reduced CFTR mRNA levels.

Smit, L S; Nasr, S Z; Iannuzzi, M C; Collins, F S

Smit, L S; Nasr, S Z; Iannuzzi, M C; Collins, F S.

Affiliation

Smit LS; Department of Human Genetics, University of Michigan, Ann Arbor 48109.

Hum Mutat ; 2(2): 148-51, 1993.

Article in En | MEDLINE | ID: mdl-7686423

Subject(s)

Cystic Fibrosis/genetics; Membrane Proteins/genetics; RNA, Messenger/genetics; Adult; Base Sequence; Black People/genetics; Cystic Fibrosis/metabolism; Cystic Fibrosis Transmembrane Conductance Regulator; DNA/genetics; Female; Frameshift Mutation; Homozygote; Humans; Molecular Sequence Data; Phenotype; RNA, Messenger/metabolism

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Database: MEDLINE Main subject: RNA, Messenger / Cystic Fibrosis / Membrane Proteins Type of study: Risk_factors_studies Limits: Adult / Female / Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 1993 Type: Article

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