Frequency of the IVS-10nt546 mutation in 44 Turkish phenylketonuria patients
The newly identified point mutation in intron 10 of the phenylalanine hydroxylase gene activates a cryptic splice site and results in an in-frame insertion of nine nucleotides between exons 10 and 11 of the processed transcript. This mutation is observed in association with haplotype 6 of phe...
| Main Authors: | , , , , , |
|---|---|
| 格式: | 文件 |
| 语言: | English |
| 出版: |
Hacettepe University Institute of Child Health
1993-01-01
|
| 丛编: | The Turkish Journal of Pediatrics |
| 在线阅读: | https://turkjpediatr.org/article/view/3653 |