A 4-NUCLEOTIDE INSERTION HOTSPOT IN THE X-CHROMOSOME LOCATED PYRUVATE-DEHYDROGENASE E1-ALPHA-GENE (PDHA1)

被引：14

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

来源：

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

关键词：

D O I：

10.1093/hmg/2.4.473

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：473 / 474

页数：2

共 9 条

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[5] A TESTIS-SPECIFIC FORM OF THE HUMAN PYRUVATE-DEHYDROGENASE E1-ALPHA SUBUNIT IS CODED FOR BY AN INTRONLESS GENE ON CHROMOSOME-4 [J].

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[6] A 4-NUCLEOTIDE INSERTION AT THE E1 ALPHA GENE IN A PATIENT WITH PYRUVATE-DEHYDROGENASE DEFICIENCY [J].

ENDO, H ;

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[7]

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[8]

KUNKEL TA, 1985, J BIOL CHEM, V260, P2866

[9] PYRUVATE-DEHYDROGENASE COMPLEX ACTIVITY IN NORMAL AND DEFICIENT FIBROBLASTS [J].

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