苯丙氨酸羟化酶基因（PAH）中的错义突变可导致PAH酶的蛋白水解转换加速：这是苯丙酮尿症的一种潜在机制。 - Suppr

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超能文献

Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: a mechanism underlying phenylketonuria.

作者信息

Waters P J, Parniak M A, Akerman B R, Jones A O, Scriver C R

机构信息

deBelle Laboratory, McGill University-Montreal Children's Hospital Research Institute, Quebec, Canada.

出版信息

J Inherit Metab Dis. 1999 May;22(3):208-12. doi: 10.1023/a:1005533825980.

DOI:10.1023/a:1005533825980

PMID:10384369

Abstract

摘要

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本文引用的文献

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