Molecular Genetic Study of Dihydropteridine Reductase Deficient Hyperphenylalaninemia in Chinese
碩士 === 國立陽明大學 === 遺傳學研究所 === 89 === Hyperphenylalainemia ( HPA ) is an autosomal recessive disorder of phenylalanine hydroxylation. For the hydroxylation to function normally, phenylalanine hydroxylase ( PAH ) and it’s cofactor, tetrahydrobiopterin ( BH4 ) are required. Dihydropteridine r...
| Main Authors: | , |
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| Other Authors: | |
| Format: | Others |
| Language: | zh-TW |
| Published: |
2001
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| Online Access: | http://ndltd.ncl.edu.tw/handle/05412331480205815291 |