Retinitis pigmentosa and ataxia caused by a mutation in the gene for the alpha-tocopherol transfer protein

被引:51
作者
Yokota, T [1 ]
Shiojiri, T [1 ]
Gotoda, T [1 ]
Arai, H [1 ]
机构
[1] UNIV TOKYO,TOKYO 113,JAPAN
关键词
D O I
10.1056/NEJM199612053352315
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:1770 / 1771
页数:2
相关论文
共 4 条
[1]   ADULT-ONSET SPINOCEREBELLAR DYSFUNCTION CAUSED BY A MUTATION IN THE GENE FOR THE ALPHA-TOCOPHEROL-TRANSFER PROTEIN [J].
GOTODA, T ;
ARITA, M ;
ARAI, H ;
INOUE, K ;
YOKOTA, T ;
FUKUO, Y ;
YAZAKI, Y ;
YAMADA, N .
NEW ENGLAND JOURNAL OF MEDICINE, 1995, 333 (20) :1313-1318
[2]   REVERSIBLE NEUROLOGICAL SYMPTOMS CAUSED BY VITAMIN-E-DEFICIENCY IN A PATIENT WITH SHORT BOWEL SYNDROME [J].
HOWARD, L ;
OVESEN, L ;
SATYAMURTI, S ;
CHU, R .
AMERICAN JOURNAL OF CLINICAL NUTRITION, 1982, 36 (06) :1243-1249
[3]   ALPHA-TOCOPHEROL IN THE DEVELOPING RAT RETINA - A HIGH-PRESSURE LIQUID-CHROMATOGRAPHIC ANALYSIS [J].
HUNT, DF ;
ORGANISCIAK, DT ;
WANG, HM ;
WU, RLC .
CURRENT EYE RESEARCH, 1984, 3 (11) :1281-1288
[4]  
ROBINSON WG, 1982, RETINA, V4, P263