Abstract
We have identified three new frameshift mutations in the CFTR gene in patients with cystic fibrosis (CF). The first one involves the deletion of an adenine nucleotide in exon 4 in an African-American patient (CF444delA), the second involves the insertion of a cytosine nucleotide in exon 13 in an Italian patient (CF2522insC), and the third results from the deletion of a thymidine nucleotide in exon 19 in a Soviet patient (CF3821delT). Each mutation is predicted to result in premature termination of the CFTR protein.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adult
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Africa / ethnology
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Amino Acid Sequence
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Base Sequence
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Child
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Child, Preschool
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Cystic Fibrosis / ethnology
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Cystic Fibrosis / genetics*
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Cystic Fibrosis Transmembrane Conductance Regulator
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DNA
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Exons
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Frameshift Mutation*
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Humans
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Italy / ethnology
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Membrane Proteins / genetics*
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Molecular Sequence Data
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USSR / ethnology
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United States
Substances
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CFTR protein, human
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Membrane Proteins
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Cystic Fibrosis Transmembrane Conductance Regulator
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DNA
Associated data
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GENBANK/M65196
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GENBANK/M65197
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GENBANK/M65198
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GENBANK/M65277
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GENBANK/M65278
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GENBANK/M65279
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GENBANK/M65280
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GENBANK/M65281
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GENBANK/M65282
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GENBANK/M65283