A NOVEL MUTATION (P316L) IN A FEMALE WITH PYRUVATE-DEHYDROGENASE E1-ALPHA DEFICIENCY

被引：6

作者：

TAKAKUBO, F ^{[1
]}

THORBURN, DR ^{[1
]}

BROWN, RM ^{[1
]}

BROWN, GK ^{[1
]}

DAHL, HHM ^{[1
]}

机构：

[1] ROYAL CHILDRENS HOSP, MURDOCH INST RES BIRTH DEFECTS, MELBOURNE, VIC 3052, AUSTRALIA

来源：

HUMAN MUTATION | 1995年 / 6卷 / 03期

关键词：

D O I：

10.1002/humu.1380060317

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：274 / 275

页数：2

共 9 条

[1]

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[2] CEREBRAL LACTIC-ACIDOSIS - DEFECTS IN PYRUVATE METABOLISM WITH PROFOUND BRAIN-DAMAGE AND MINIMAL SYSTEMIC ACIDOSIS [J].

BROWN, GK ;

HAAN, EA ;

KIRBY, DM ;

SCHOLEM, RD ;

WRAITH, JE ;

ROGERS, JG ;

DANKS, DM .

EUROPEAN JOURNAL OF PEDIATRICS, 1988, 147 (01) :10-14

[3] X-CHROMOSOME LOCALIZATION OF THE FUNCTIONAL GENE FOR THE E1-ALPHA SUBUNIT OF THE HUMAN PYRUVATE-DEHYDROGENASE COMPLEX [J].

BROWN, RM ;

DAHL, HHM ;

BROWN, GK .

GENOMICS, 1989, 4 (02) :174-181

[4] DIFFERENTIAL METHYLATION OF THE HYPERVARIABLE LOCUS DXS255 ON ACTIVE AND INACTIVE X-CHROMOSOMES CORRELATES WITH THE EXPRESSION OF A HUMAN X-LINKED GENE [J].

BROWN, RM ;

FRASER, NJ ;

BROWN, GK .

GENOMICS, 1990, 7 (02) :215-221

[5]

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

[6] CHARACTERIZATION OF THE MUTATIONS IN 3 PATIENTS WITH PYRUVATE-DEHYDROGENASE E1-ALPHA DEFICIENCY [J].

HANSEN, LL ;

BROWN, GK ;

KIRBY, DM ;

DAHL, HHM .

JOURNAL OF INHERITED METABOLIC DISEASE, 1991, 14 (02) :140-151

[7]

Robinson B.H., 1989, METABOLIC BASIS INHE, P869

[8] LACTIC ACIDEMIA [J].

ROBINSON, BH ;

SHERWOOD, WG .

JOURNAL OF INHERITED METABOLIC DISEASE, 1984, 7 :69-73

[9] A NOVEL MUTATION AND A POLYMORPHISM IN THE X-CHROMOSOME LOCATED PYRUVATE-DEHYDROGENASE E1-ALPHA GENE (PDHA1) [J].

TAKAKUBO, F ;

THORBURN, DR ;

DAHL, HHM .

HUMAN MOLECULAR GENETICS, 1993, 2 (11) :1961-1962

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