MITOCHONDRIAL ACETOACETYL COENZYME-A THIOLASE GENE - A NOVEL 68-BP DELETION INVOLVING 3' SPLICE-SITE OF INTRON-7, CAUSING EXON-8 SKIPPING IN A CAUCASIAN PATIENT WITH BETA-KETOTHIOLASE DEFICIENCY

被引：11

作者：

FUKAO, T

SONG, XQ

YAMAGUCHI, S

ORII, T

WANDERS, RJA

POLLTHE, BT

HASHIMOTO, T

机构：

[1] SHIMANE MED UNIV,DEPT PEDIAT,IZUMO,SHIMANE 693,JAPAN

[2] UNIV HOSP AMSTERDAM,DEPT PEDIAT CLIN LAB,AMSTERDAM,NETHERLANDS

[3] UNIV UTRECHT,CHILDRENS HOSP WILHELMINA KINDERZIEKENHUIS,DEPT METAB DIS,UTRECHT,NETHERLANDS

[4] SHINSHU UNIV,SCH MED,DEPT BIOCHEM,MATSUMOTO,NAGANO 390,JAPAN

来源：

HUMAN MUTATION | 1995年 / 5卷 / 01期

关键词：

D O I：

10.1002/humu.1380050113

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：94 / 96

页数：3

共 14 条

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