Molecular genetic analyses of cystinuria type 1 in 24 Turkish patients
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,...
| Hauptverfasser: | , , , , , |
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| Format: | Artikel |
| Sprache: | English |
| Veröffentlicht: |
Hacettepe University Institute of Child Health
2001-04-01
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| Schriftenreihe: | The Turkish Journal of Pediatrics |
| Online Zugang: | https://turkjpediatr.org/article/view/3031 |