Phenylalanine Hydroxylase Gene Mutations and Polymorphisms in Phenylketonuria Egyptian Families
Maha Moustafa Kamal Mahmoud;
Abstract
Phenylketonuria is an autosomal recessive genetic disorder which results in 95% of the cases from deficient activity of the PAH enzyme, while in 5% of the cases it is caused by deficiency of BH4, the cofactor of the PAH enzyme. The PAH gene is located on
Other data
| Title | Phenylalanine Hydroxylase Gene Mutations and Polymorphisms in Phenylketonuria Egyptian Families | Authors | Maha Moustafa Kamal Mahmoud | Keywords | Phenylalanine Hydroxylase Gene Mutations and Polymorphisms in Phenylketonuria Egyptian Families | Issue Date | 2008 | Description | Phenylketonuria is an autosomal recessive genetic disorder which results in 95% of the cases from deficient activity of the PAH enzyme, while in 5% of the cases it is caused by deficiency of BH4, the cofactor of the PAH enzyme. The PAH gene is located on |
Attached Files
| File | Size | Format | |
|---|---|---|---|
| Binder1.pdf | 149.58 kB | Adobe PDF | View/Open |
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