Abstract
An A-->G transition in the acceptor splice site at the intron 19/exon 20 junction of the glycoprotein IIb gene was defined as a novel mutation causing Glanzmann thrombasthenia in two Iraqi-Jewish siblings. This mutant DNA was transcribed into four distinct species of mRNA, one of which resulted in a premature termination codon and the other three predicting deletions of 50, 61 or 72 amino acids, respectively.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Aged
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Base Sequence
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Consanguinity
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DNA Mutational Analysis
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Exons / genetics
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Female
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Humans
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Introns / genetics
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Iraq / ethnology
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Israel
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Jews / genetics*
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Male
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Middle Aged
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Molecular Sequence Data
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Platelet Glycoprotein GPIIb-IIIa Complex / genetics*
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Point Mutation*
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RNA Splicing*
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Thrombasthenia / genetics*
Substances
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Platelet Glycoprotein GPIIb-IIIa Complex