PYRUVATE-DEHYDROGENASE DEFICIENCY IN A MALE CAUSED BY A POINT MUTATION (F205L) IN THE E1-ALPHA SUBUNIT

被引：13
作者：
DAHL, HHM
BROWN, GK
机构：
[1] Murdoch Institute for Research Into Birth Defects, Royal Children's Hospital, Melbourne, Victoria, 3052, Parkville
[2] Genetics Laboratory, Department of Biochemistry, University of Oxford, Oxford
来源：
HUMAN MUTATION | 1994年 / 3卷 / 02期
关键词：
D O I：
10.1002/humu.1380030210
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
[No abstract available]
引用
收藏
页码：152 / 155
页数：4
相关论文
共 20 条
  • [1] NUCLEOTIDE AND DEDUCED AMINO-ACID SEQUENCE OF THE ALPHA-SUBUNIT OF YEAST PYRUVATE-DEHYDROGENASE
    BEHAL, RH
    BROWNING, KS
    REED, LJ
    [J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1989, 164 (02) : 941 - 946
  • [2] HYPERAMMONEMIA AND LACTIC-ACIDOSIS IN A PATIENT WITH PYRUVATE-DEHYDROGENASE DEFICIENCY
    BROWN, GK
    SCHOLEM, RD
    HUNT, SM
    HARRISON, JR
    POLLARD, AC
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1987, 10 (04) : 359 - 366
  • [3] BROWN GK, 1989, ANN NY ACAD SCI, V573, P360, DOI 10.1111/j.1749-6632.1989.tb15011.x
  • [4] X-CHROMOSOME LOCALIZATION OF THE FUNCTIONAL GENE FOR THE E1-ALPHA SUBUNIT OF THE HUMAN PYRUVATE-DEHYDROGENASE COMPLEX
    BROWN, RM
    DAHL, HHM
    BROWN, GK
    [J]. GENOMICS, 1989, 4 (02) : 174 - 181
  • [5] THE CPG DINUCLEOTIDE AND HUMAN GENETIC-DISEASE
    COOPER, DN
    YOUSSOUFIAN, H
    [J]. HUMAN GENETICS, 1988, 78 (02) : 151 - 155
  • [6] Dahl H.-H. M., 1992, Human Mutation, V1, P97, DOI 10.1002/humu.1380010203
  • [7] DAHL HHM, 1987, J BIOL CHEM, V262, P7398
  • [8] A TESTIS-SPECIFIC FORM OF THE HUMAN PYRUVATE-DEHYDROGENASE E1-ALPHA SUBUNIT IS CODED FOR BY AN INTRONLESS GENE ON CHROMOSOME-4
    DAHL, HHM
    BROWN, RM
    HUTCHISON, WM
    MARAGOS, C
    BROWN, GK
    [J]. GENOMICS, 1990, 8 (02) : 225 - 232
  • [9] ISOLATION AND CHARACTERIZATION OF THE MOUSE PYRUVATE DEHYDROGENASE-E1-ALPHA GENES
    FITZGERALD, J
    HUTCHISON, WM
    DAHL, HHM
    [J]. BIOCHIMICA ET BIOPHYSICA ACTA, 1992, 1131 (01) : 83 - 90
  • [10] FORREST SM, 1991, AM J HUM GENET, V49, P175
12