A NOVEL MUTATION AND A POLYMORPHISM IN THE X-CHROMOSOME LOCATED PYRUVATE-DEHYDROGENASE E1-ALPHA GENE (PDHA1)

被引:13
作者
TAKAKUBO, F [1 ]
THORBURN, DR [1 ]
DAHL, HHM [1 ]
机构
[1] ROYAL CHILDRENS HOSP,MURDOCH INST RES BIRTH DEFECTS,FLEMINGTON RD,PARKVILLE,VIC 3052,AUSTRALIA
基金
英国医学研究理事会;
关键词
D O I
10.1093/hmg/2.11.1961
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
[No abstract available]
引用
收藏
页码:1961 / 1962
页数:2
相关论文
共 9 条
[1]   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
[2]   THE CPG DINUCLEOTIDE AND HUMAN GENETIC-DISEASE [J].
COOPER, DN ;
YOUSSOUFIAN, H .
HUMAN GENETICS, 1988, 78 (02) :151-155
[3]   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
[4]  
Dahl H.-H. M., 1992, Human Mutation, V1, P97, DOI 10.1002/humu.1380010203
[5]   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
[6]  
FITZGERALD DJ, 1993, THESIS, P119
[7]   PYRUVATE-DEHYDROGENASE COMPLEX ACTIVITY IN NORMAL AND DEFICIENT FIBROBLASTS [J].
SHEU, KFR ;
HU, CWC ;
UTTER, MF .
JOURNAL OF CLINICAL INVESTIGATION, 1981, 67 (05) :1463-1471
[8]  
VANLAACK HLJM, 1988, CLIN CHIM ACTA, V171, P109
[9]   IMMUNOCHEMICAL ANALYSIS OF NORMAL AND MUTANT FORMS OF HUMAN PYRUVATE-DEHYDROGENASE [J].
WICKING, CA ;
SCHOLEM, RD ;
HUNT, SM ;
BROWN, GK .
BIOCHEMICAL JOURNAL, 1986, 239 (01) :89-96