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
β¦ LIBER β¦
A novel donor splice site mutation in the C1-inhibitor gene of a patient with type I hereditary angioneurotic edema
β Scribed by Kawachi, Yasuhiro; Hibi, Takenobu; Yamazaki, Soji; Otsuka, Fujio
- Book ID
- 119562635
- Publisher
- Elsevier Science
- Year
- 1998
- Tongue
- English
- Weight
- 163 KB
- Volume
- 16
- Category
- Article
- ISSN
- 0923-1811
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