A SILENT A-MUTATION TO G-MUTATION IN EXON-11 OF THE MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) GENE

被引:13
作者
ANDRESEN, BS
KOLVRAA, S
BROSS, P
BOLUND, L
CURTIS, D
EIBERG, H
ZHANG, ZF
KELLY, DP
STRAUSS, AW
GREGERSEN, N
机构
[1] SKEJBY SYGEHUS,DK-8200 AARHUS N,DENMARK
[2] AARHUS UNIV,INST HUMAN GENET,DK-8000 AARHUS,DENMARK
[3] CTR HUMAN GENET,SHEFFIELD S10 5DN,ENGLAND
[4] PANUM INST,INST MED GENET,DK-2200 COPENHAGEN N,DENMARK
[5] WASHINGTON UNIV,SCH MED,DEPT INTERNAL MED,ST LOUIS,MO 63110
[6] WASHINGTON UNIV,SCH MED,DEPT PEDIAT,ST LOUIS,MO 63110
关键词
D O I
10.1093/hmg/2.4.488
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
收藏
页码:488 / 488
页数:1
相关论文
共 5 条
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  • [2] SPECIFIC DIAGNOSIS OF MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) DEFICIENCY IN DRIED BLOOD SPOTS BY A POLYMERASE CHAIN-REACTION (PCR) ASSAY DETECTING A POINT-MUTATION (G985) IN THE MCAD GENE
    GREGERSEN, N
    BLAKEMORE, AIF
    WINTER, V
    ANDRESEN, B
    KOLVRAA, S
    BOLUND, L
    CURTIS, D
    ENGEL, PC
    [J]. CLINICA CHIMICA ACTA, 1991, 203 (01) : 23 - 34
  • [3] KELLY DP, 1987, P NATL ACAD SCI USA, V86, P6677
  • [4] MATSUBARA Y, 1987, J BIOL CHEM, V262, P10104
  • [5] ZHANG Z, 1991, BIOCHEMISTRY-US, V31, P81