A novel missense mutation in the phenylalanine hydroxylase gene of a homozygous Pakistani patient with non-PKU hyperphenylalaninemia.
作者信息
Guldberg P, Lou H C, Henriksen K F, Mikkelsen I, Olsen B, Holck B, Güttler F
机构信息
Danish Center for Human Genome Research, John F. Kennedy Institute, Glostrup, Denmark.
出版信息
Hum Mol Genet. 1993 Jul;2(7):1061-2. doi: 10.1093/hmg/2.7.1061.
PMID:8364546
Abstract
摘要
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