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

来源：

HUMAN MOLECULAR GENETICS | 1993年 / 2卷 / 04期

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

页码：488 / 488

页数：1

共 5 条

[1]

GREGERSEN N, 1991, HUM GENET, V86, P545

[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 [J].

GREGERSEN, N ;

BLAKEMORE, AIF ;

WINTER, V ;

ANDRESEN, B ;

KOLVRAA, S ;

BOLUND, L ;

CURTIS, D ;

ENGEL, PC .

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

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