Electronic Resource
Oxford, UK
:
Blackwell Publishing Ltd
British journal of dermatology
134 (1996), S. 0
ISSN:
1365-2133
Source:
Blackwell Publishing Journal Backfiles 1879-2005
Topics:
Medicine
Notes:
Summary Hereditary angioedema (HAE) is a genetic disease which may be detected serologically. We present a patient with HAE in whom we examined the gene defect using the polymerase chain reaction. The patient presented with recurrent episodes of abdominal pain, or non-itchy swellings of the hands, feet, and penis. The serum levels of C1 inhibitor (C1-INH and C4 were below normal. We determined that a single base change (C-T) at nucleotide 1482 in the seventh exon was present in the C1-INH gene. This mutation converted the codon for the Gln-339 to a premature translation termination codon TAG. A point mutation in the C1-INH gene can cause type I HAE.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1111/j.1365-2133.1996.tb06980.x
| Library |
Location |
Call Number |
Volume/Issue/Year |
Availability |
