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C1-inhibitor gene nucleotide insertion causes type II hereditary angio-oedema

โœ Scribed by Z. Siddique; A. R. McPhaden; K. Whaley


Book ID
104669384
Publisher
Springer
Year
1993
Tongue
English
Weight
289 KB
Volume
92
Category
Article
ISSN
0340-6717

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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