Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency: Possible regulation of gene expression in a patient with the homozygous L48S mutation

被引：31

作者：

Blau, N

Trefz, FK

机构：

[1] Univ Zurich, Childrens Hosp, Div Clin Chem & Biochem, CH-8032 Zurich, Switzerland

[2] Univ Tubingen, Sch Med, Klin Kinder & Jugendmed Reutlingen, Reutlingen, Germany

来源：

MOLECULAR GENETICS AND METABOLISM | 2002年 / 75卷 / 02期

关键词：

D O I：

10.1006/mgme.2001.3294

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：186 / 187

页数：2

共 9 条

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