NOVEL (CYS152-GREATER-THAN-ARG) MISSENSE MUTATION IN AN ARAB PATIENT WITH CANAVAN DISEASE

被引:23
作者
KAUL, R
GAO, GP
MICHALS, K
WHELAN, DT
LEVIN, S
MATALON, R
机构
[1] MCMASTER UNIV,MED CTR,CHEDOKE MCMASTER HOSP,HAMILTON,ON L8N 3Z5,CANADA
[2] VICTORIA HOSP,LONDON,ON N6A 4G5,CANADA
关键词
D O I
10.1002/humu.1380050313
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
[No abstract available]
引用
收藏
页码:269 / 271
页数:3
相关论文
共 13 条
[1]   SPONGY DEGENERATION OF CENTRAL NERVOUS-SYSTEM (VAN-BOGAERT AND BERTRAND TYPE - CANAVANS DISEASE) - REVIEW [J].
ADACHI, M ;
SCHNECK, L ;
CARA, J ;
VOLK, BW .
HUMAN PATHOLOGY, 1973, 4 (03) :331-347
[2]   ELECTRON MICROSCOPIC AND ENZYME HISTOCHEMICAL STUDIES OF CEREBELLUM IN SPONGY DEGENERATION - (VAN BOGAERT AND BERTRAND TYPE) [J].
ADACHI, M ;
SCHNECK, L ;
VOLK, BW ;
TORII, J .
ACTA NEUROPATHOLOGICA, 1972, 20 (01) :22-&
[3]   CEREBRAL SPONGY DEGENERATION OF INFANCY - BIOCHEMICAL AND ULTRASTRUCTURAL STUDY OF AFFECTED TWINS [J].
ADORNATO, BT ;
ROE, TF ;
LAMPERT, PW ;
OBRIEN, JS ;
NEUSTEIN, HB .
NEUROLOGY, 1972, 22 (02) :202-&
[4]  
BANBOGAERT L, 1967, SPONGY DEGENERATION
[5]  
BANKER BQ, 1979, GENETIC DIS ASHKENAZ, P201
[6]   Schilder's encephalitis periaxialis diffusa - Report or a case in a child aged sixteen and one-half months [J].
Canavan, MM .
ARCHIVES OF NEUROLOGY AND PSYCHIATRY, 1931, 25 (02) :299-308
[7]   CLONING OF THE HUMAN ASPARTOACYLASE CDNA AND A COMMON MISSENSE MUTATION IN CANAVAN DISEASE [J].
KAUL, R ;
GAO, GP ;
BALAMURUGAN, K ;
MATALON, R .
NATURE GENETICS, 1993, 5 (02) :118-123
[8]  
KAUL R, 1994, AM J HUM GENET, V55, P34
[9]   CANAVAN DISEASE - GENOMIC ORGANIZATION AND LOCALIZATION OF HUMAN ASPA TO 17P13-TER AND CONSERVATION OF THE ASPA GENE DURING EVOLUTION [J].
KAUL, R ;
BALAMURUGAN, K ;
GAO, GP ;
MATALON, R .
GENOMICS, 1994, 21 (02) :364-370
[10]   CANAVAN DISEASE - BIOCHEMICAL AND MOLECULAR STUDIES [J].
MATALON, R ;
KAUL, R ;
MICHALS, K .
JOURNAL OF INHERITED METABOLIC DISEASE, 1993, 16 (04) :744-752