Article
Molecular genetic analyses of cystinuria type 1 in 24 Turkish patients.
The Turkish journal of pediatrics - 1 Jan 2000
Dayangaç D, Kalkanoğlu H S, Durmuş-Aydogdu S, Erdem H, Beşbaş N, Coşkun T
Abstract excerpt
M467T mutation (exon 8) in rBAT gene is found to be the most common mutation in cystinuria type I patients. In our series consisting of 24 patients, the allele frequency of the M467T mutation was 8.3 percent (4/48). The second most frequent mutation at the same nucleotide position was M467K, with an allele frequency of 4.2 percent (2/48). The polymorphism which is found in linkage disequilibrium with the M467T is...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.