Phenylketonuria in Britain: genetic analysis gives a historical perspective of the disorder but will it predict the future for affected individuals?
作者信息
Tyfield L A
机构信息
Molecular Genetics Unit, Lewis Laboratories, Southmead Hospital, Bristol.
出版信息
Mol Pathol. 1997 Aug;50(4):169-74. doi: 10.1136/mp.50.4.169.
Abstract
摘要
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Sequence variation at the phenylalanine hydroxylase gene in the British Isles.不列颠群岛苯丙氨酸羟化酶基因的序列变异
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The phenylalanine hydroxylase locus: a marker for the history of phenylketonuria and human genetic diversity. PAH Mutation Analysis Consortium.苯丙氨酸羟化酶基因座：苯丙酮尿症病史及人类遗传多样性的一个标志物。PAH突变分析联盟。
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