A novel nonsense mutation of the PEPD gene in a Japanese patient with prolidase deficiency

被引：16

作者：

Kikuchi, S

Tanoue, A

Endo, F

Wakasugi, S

Matsuo, N

Tsujimoto, G

机构：

[1] Natl Childrens Med Res Ctr, Dept Mol & Cellular Pharmacol, Setagaya Ku, Tokyo 1548509, Japan

[2] Kumamoto Univ, Sch Med, Dept Pediat, Kumamoto 860, Japan

[3] Kumamoto Univ, Sch Med, Dept Dermatol, Kumamoto 860, Japan

[4] Keio Univ, Sch Med, Dept Pediat, Tokyo, Japan

来源：

JOURNAL OF HUMAN GENETICS | 2000年 / 45卷 / 02期

关键词：

PEPD; prolidase deficiency; mutation; polymorphism; nonsense mutation;

D O I：

10.1007/s100380050023

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A nonsense mutation at amino acid residue 184 in the human peptidase D (PEPD) gene caused the production of a truncated polypeptide. Characterizing molecular defects in patients provides clues to elucidate the relationship between the phenotype and the genotype.

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收藏

页码：102 / 104

页数：3

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