PYRUVATE-DEHYDROGENASE DEFICIENCY CAUSED BY A 4-NUCLEOTIDE INSERTION IN THE E(1)ALPHA-SUBUNIT GENE

被引：10

作者：

NAITO, E ^{[1
]}

ITO, M ^{[1
]}

YOKOTA, I ^{[1
]}

MATSUDA, J ^{[1
]}

YARA, A ^{[1
]}

KURODA, Y ^{[1
]}

机构：

[1] UNIV RYUKYUS,SCH MED,DEPT PEDIAT,OKINAWA 90301,JAPAN

来源：

HUMAN MOLECULAR GENETICS | 1994年 / 3卷 / 07期

关键词：

D O I：

10.1093/hmg/3.7.1193

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

引用

页码：1193 / 1194

页数：2

共 7 条

[1]

COOPER DN, 1991, HUM GENET, V87, P409

[2]

Dahl H.-H. M., 1992, Human Mutation, V1, P97, DOI 10.1002/humu.1380010203

[3]

ENDO H, 1989, AM J HUM GENET, V44, P358

[4] DEMONSTRATION OF AN UNSTABLE VARIANT OF PYRUVATE-DEHYDROGENASE PROTEIN (E1) IN CULTURED FIBROBLASTS FROM A PATIENT WITH CONGENITAL LACTIC ACIDEMIA [J].

HUQ, AHMM ;

ITO, M ;

NAITO, E ;

SAIJO, T ;

TAKEDA, E ;

KURODA, Y .

PEDIATRIC RESEARCH, 1991, 30 (01) :11-14

[5] MUTATION OF E1-ALPHA GENE IN A FEMALE-PATIENT WITH PYRUVATE-DEHYDROGENASE DEFICIENCY DUE TO RAPID DEGRADATION OF E1 PROTEIN [J].

ITO, M ;

HUQ, AHMM ;

NAITO, E ;

SAIJO, T ;

TAKEDA, E ;

KURODA, Y .

JOURNAL OF INHERITED METABOLIC DISEASE, 1992, 15 (06) :848-856

[6]

KRAWCZAK M, 1991, HUM GENET, V86, P425

[7]

RAHMATULLAH M, 1989, J BIOL CHEM, V264, P2221

← 1 →