| Autor: |
D, Dayangaç, H S, Kalkanoğlu, S, Durmuş-Aydogdu, H, Erdem, N, Beşbaş, T, Coşkun |
| Rok vydání: |
2001 |
| Předmět: |
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| Zdroj: |
The Turkish journal of pediatrics. 43(2) |
| ISSN: |
0041-4301 |
| Popis: |
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 231T/A (exon 1). We also found that 231T/A was associated with the M467T mutation in our series. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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