PYRUVATE-DEHYDROGENASE DEFICIENCY CAUSED BY A 33-BASE-PAIR DUPLICATION IN THE PDH E1-ALPHA SUBUNIT

被引：9

作者：

HANSEN, LL

HORN, N

DAHL, HHM

KRUSE, TA

机构：

[1] JOHN F KENNEDY INST,DK-2600 GLOSTRUP,DENMARK

[2] ROYAL CHILDRENS HOSP,MURDOCH INST,MELBOURNE,VIC 3052,AUSTRALIA

来源：

HUMAN MOLECULAR GENETICS | 1994年 / 3卷 / 06期

关键词：

D O I：

10.1093/hmg/3.6.1021

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：1021 / 1022

页数：2

共 13 条

[1] HYPERAMMONEMIA AND LACTIC-ACIDOSIS IN A PATIENT WITH PYRUVATE-DEHYDROGENASE DEFICIENCY [J].

BROWN, GK ;

SCHOLEM, RD ;

HUNT, SM ;

HARRISON, JR ;

POLLARD, AC .

JOURNAL OF INHERITED METABOLIC DISEASE, 1987, 10 (04) :359-366

[2] 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

[3]

Christodoulou J., 1992, American Journal of Human Genetics, V51, pA42

[4] REACTIVITY OF CYTOSINE AND THYMINE IN SINGLE-BASE-PAIR MISMATCHES WITH HYDROXYLAMINE AND OSMIUM-TETROXIDE AND ITS APPLICATION TO THE STUDY OF MUTATIONS [J].

COTTON, RGH ;

RODRIGUES, NR ;

CAMPBELL, RD .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1988, 85 (12) :4397-4401

[5]

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

[6] X-LINKED PYRUVATE-DEHYDROGENASE E1-ALPHA SUBUNIT DEFICIENCY IN HETEROZYGOUS FEMALES - VARIABLE MANIFESTATION OF THE SAME MUTATION [J].

DAHL, HHM ;

HANSEN, LL ;

BROWN, RM ;

DANKS, DM ;

ROGERS, JG ;

BROWN, GK .

JOURNAL OF INHERITED METABOLIC DISEASE, 1992, 15 (06) :835-847

[7]

DAHL HHM, 1990, AM J HUM GENET, V47, P286

[8] POLYMORPHISMS IN THE HUMAN X-LINKED PYRUVATE-DEHYDROGENASE E1-ALPHA GENE [J].

DAHL, HHM ;

HUTCHISON, WM ;

GUO, Z ;

FORREST, SM ;

HANSEN, LL .

HUMAN GENETICS, 1991, 87 (01) :49-53

[9] PYRUVATE-DEHYDROGENASE DEFICIENCY DUE TO A MUTATION OF THE E1 ALPHA SUBUNIT [J].

DEMEIRLEIR, LJ ;

LISSENS, W ;

VAMOS, E ;

LIEBAERS, I .

JOURNAL OF INHERITED METABOLIC DISEASE, 1991, 14 (03) :301-304

[10]

HANSEN LL, J INHERIT METAB DIS, V147, P140

← 1 2 →