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A large heterozygous deletion including the entire C1 inhibitor gene in a sporadic case of hereditary angio-oedema

โœ Scribed by K. Iwamoto; A. Tanaka; M. Kawai; K. Ishii; S. Mihara; M. Hide


Book ID
108697017
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
244 KB
Volume
37
Category
Article
ISSN
0307-6938

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An RNA splice site mutation in the C1-in
โœ Z. Siddique; A. R. McPhaden; D. F. Lappin; K. Whaley ๐Ÿ“‚ Article ๐Ÿ“… 1991 ๐Ÿ› Springer ๐ŸŒ English โš– 432 KB

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