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
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
收藏
页码:193 / 194
页数:2
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