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
收藏
页码：208 / 212
页数：5
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