PREMATURE TERMINATION CODON AT THE STEROL 27-HYDROXYLASE GENE CAUSES CEREBROTENDINOUS XANTHOMATOSIS IN AN AFRIKANER FAMILY

被引：23

作者：

MEINER, V

MARAIS, DA

RESHEF, A

BJORKHEM, I

LEITERSDORF, E

机构：

[1] HADASSAH UNIV HOSP,DIV MED,IL-91120 JERUSALEM,ISRAEL

[2] HADASSAH UNIV HOSP,CTR RES PREVENT & TREATMENT ATHEROSCLEROSIS,IL-91120 JERUSALEM,ISRAEL

[3] HUDDINGE UNIV HOSP,KAROLINSKA INST,DEPT CLIN CHEM,S-14186 HUDDINGE,SWEDEN

[4] UNIV CAPE TOWN,SCH MED,DEPT INTERNAL MED,CAPE TOWN 7925,SOUTH AFRICA

来源：

关键词：

D O I：

10.1093/hmg/3.1.193

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

页码：193 / 194

页数：2

共 8 条

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[6] FRAMESHIFT AND SPLICE-JUNCTION MUTATIONS IN THE STEROL 27-HYDROXYLASE GENE CAUSE CEREBROTENDINOUS XANTHOMATOSIS IN JEWS OF MOROCCAN ORIGIN
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