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

被引：34

作者：

Waters, PJ

Parniak, MA

Akerman, BR

Jones, AO

Scriver, CR

机构：

[1] McGill Univ, Montreal Childrens Hosp, deBelle Lab Biochem Genet, Montreal, PQ H3H 1P3, Canada

[2] Sir Mortimer B Davis Jewish Hosp, Lady Davis Inst Med Res, Montreal, PQ H3T 1E2, Canada

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1999年 / 22卷 / 03期

关键词：

D O I：

10.1023/A:1005533825980

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：208 / 212

页数：5

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