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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: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
1991
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1682985/ https://ncbi.nlm.nih.gov/pubmed/1998345 |
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