Article
Identification of a novel phenylketonuria (PKU) mutation in the Chinese: further evidence for multiple origins of PKU in Asia.
American journal of human genetics - 1 Mar 1991
Wang T, Okano Y, Eisensmith R C, Lo W H, Huang S Z, Zeng Y T, Woo S L
Abstract excerpt
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 screening indicates that this mutation constitutes about 8% of all PKU chromosomes in Chinese but is absent in Japanese and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.