An RNA splice site mutation in the C1-in
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Z. Siddique; A. R. McPhaden; D. F. Lappin; K. Whaley
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Article
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1991
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Springer
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English
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Restriction fragment length polymorphism analysis, the polymerase chain reaction and nucleotide sequencing have been used to characterise a single base substitution (G----T) at nucleotide 8863 in the C1-inhibitor gene. This destroys the 5' donor splice site recognition motif of the sixth intron. Fam