GENETICS OF CEREBROTENDINOUS XANTHOMATOSIS (CTX) - AN AUTOSOMAL RECESSIVE TRAIT WITH HIGH GENE-FREQUENCY IN SEPHARDIM OF MOROCCAN ORIGIN

被引:44
作者
BERGINER, VM
ABELIOVICH, D
机构
[1] BEN GURION UNIV NEGEV,FAC HLTH SCI,SOROKA MED CTR,CYTOGENET UNIT,IL-84101 BEER SHEBA,ISRAEL
[2] BEN GURION UNIV NEGEV,FAC HLTH SCI,SOROKA MED CTR,NEUROL UNIT,BEER SHEBA,ISRAEL
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1981年 / 10卷 / 02期
关键词
D O I
10.1002/ajmg.1320100209
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:151 / 157
页数:7
相关论文
共 17 条
[1]  
BERGINER VM, 1977, HUM HERED, V27, P165
[2]  
BERGINER VM, NEUROLOGY
[3]  
DEYONG JGY, 1977, CLIN NEUROL NEUROSUR, V79, P253
[4]  
GOODMAN RM, 1979, GENETIC DISORDERS JE, P124
[5]   HEREDITARY TENDINOUS AND TUBEROUS XANTHOMATOSIS WITHOUT HYPERLIPIDEMIA - A NEW LIPID-STORAGE DISORDER [J].
HARLAN, WR ;
STILL, WJS .
NEW ENGLAND JOURNAL OF MEDICINE, 1968, 278 (08) :416-&
[6]   PERIPHERAL NEUROPATHY IN CEREBROTENDINOUS XANTHOMATOSIS [J].
KURITZKY, A ;
BERGINER, VM ;
KORCZYN, AD .
NEUROLOGY, 1979, 29 (06) :880-881
[7]  
MCKUSICK VA, 1978, MENDELIAN INHERITANC, P446
[8]   CEREBROTENDINOUS XANTHOMATOSIS - STORAGE OF CHOLESTANOL WITHIN NERVOUS SYSTEM [J].
MENKES, JH ;
SCHIMSCHOCK, JR ;
SWANSON, PD .
ARCHIVES OF NEUROLOGY, 1968, 19 (01) :47-+
[9]  
MURAKAMI S, 1978, CLIN NEUROL, V18, P312
[10]   CEREBROTENDINOUS XANTHOMATOSIS - A DEFECT IN MITOCHONDRIAL 26-HYDROXYLATION REQUIRED FOR NORMAL BIOSYNTHESIS OF CHOLIC-ACID [J].
OFTEBRO, H ;
BJORKHEM, I ;
SKREDE, S ;
SCHREINER, A ;
PEDERSEN, JI .
JOURNAL OF CLINICAL INVESTIGATION, 1980, 65 (06) :1418-1430