Identification of a novel phenylketonuria (PKU) mutation in the Chinese: further evidence for multiple origins of PKU in Asia.

A novel mutation has been identified in the human phenylalanine hydroxylase (PAH) gene of a Chinese patient with classical phenylketonuria (PKU). It is a single base transition of G to A at the last base in intron 4 of the gene, which abolishes the 3'-acceptor site of the intron. Population scr...

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Main Authors: Wang, T, Okano, Y, Eisensmith, R C, Lo, W H, Huang, S Z, Zeng, Y T, Woo, S L
格式: Artigo
語言:Inglês
出版: 1991
主題:
Research Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682985/
https://ncbi.nlm.nih.gov/pubmed/1998345
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