An RNA splice site mutation in the C1-inhibitor gene causes type I hereditary angio-oedema

Siddique, Z., McPhaden, A.R., Lappin, D.F. and Whaley, K. (1991) An RNA splice site mutation in the C1-inhibitor gene causes type I hereditary angio-oedema. Human Genetics, 88(2), pp. 231-232. (doi: 10.1007/BF00206079)

Abstract

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. Family studies suggest that the mutation is responsible for type I hereditary angio-oedema in a studied kindred.

• Item Type: Articles
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Lappin, Dr David
• Authors: Siddique, Z., McPhaden, A.R., Lappin, D.F., and Whaley, K.
• Subjects: Q Science > QR Microbiology > QR180 Immunology
• College/School: College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing > Dental School
• Journal Name: Human Genetics
• ISSN: 0340-6717
• ISSN (Online): 1432-1203