Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia)

被引：19

作者：

Toone, JR

Applegarth, DA

Kure, S

Coulter-Mackie, MB

Sazegar, P

Kojima, K

Ichinohe, A

机构：

[1] Univ British Columbia, Dept Pediat, Vancouver, BC V6T 1W5, Canada

[2] Univ British Columbia, Dept Pathol & Lab Med, Vancouver, BC V6T 1W5, Canada

[3] British Columbia Childrens Hosp, Biochem Dis Lab, Vancouver, BC V6H 3V4, Canada

[4] Tohoku Univ, Sch Med, Dept Med Genet, Aoba Ku, Sendai, Miyagi 9808574, Japan

来源：

MOLECULAR GENETICS AND METABOLISM | 2002年 / 76卷 / 03期

关键词：

P-protein; glycine decarboxylase; nonketotic hyperglycinemia; glycine encephalopathy; NKH; GLDC; mutation;

D O I：

10.1016/S1096-7192(02)00041-0

中图分类号：

R5 [内科学];

学科分类号：

1002 [临床医学]; 100201 [内科学];

摘要：

Eight novel mutations were found in the P-protein (glycine decarboxylase) gene (GLDC) of the glycine cleavage system (EC 2.1.1.10) by screening five exons of the gene in patients with glycine encephalopathy (NKH). The mutations identified were of eight single base changes: a one-base deletion 1054del A, a splice site mutation IVS18-2A --> G and six amino acid substitutions A283P, A313P, P329T, R410K, P700A, and G762R. (C) 2002 Elsevier Science (USA). All rights reserved.

引用

页码：243 / 249

页数：7

共 18 条

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DIAGNOSTIC SINGLE-STRAND CONFORMATIONAL POLYMORPHISM, (SSCP) - A SIMPLIFIED NONRADIOISOTOPIC METHOD AS APPLIED TO A TAY-SACHS-B1 VARIANT [J].