Friedreich-like ataxia with retintis pigmentosa caused by the His101Gln mutation of the α-tocopherol transfer protein gene

Annals of Neurology

Volumn 41, Issue 6, 1997, Pages 826-832

  Yokota, Takanori ^a   Shiojiri, Toshiaki ^a   Gotoda, Takanari ^c   Arita, Makoto ^b   Arai, Hiroyuki ^b   Ohga, Tatsuhide ^d   Kanda, Takashi ^a   Suzuki, Junichi ^e   Imai, Tomihiro ^e   Matsumoto, Hiroyuki ^e   Harino, Seiyo ^d   Kiyosawa, Motohiro ^a   Mizusawa, Hidehiro ^a   Inoue, Keizo ^b  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

^c UNIVERSITY OF TOKYO   (Japan)

^d YODOGAWA CHRISTIAN HOSPITAL   (Japan)

^e SAPPORO MEDICAL UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA TOCOPHEROL; CARRIER PROTEIN; GLUTAMINE; HISTIDINE; ALPHA TOCOPHEROL TRANSFER PROTEIN; ALPHA-TOCOPHEROL TRANSFER PROTEIN;

ADULT; AGED; ALPHA TOCOPHEROL DEFICIENCY; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; DNA SEQUENCE; DRUG TOLERANCE; DYSARTHRIA; FEMALE; FRIEDREICH ATAXIA; GENE MUTATION; HUMAN; HYPOREFLEXIA; INTRACELLULAR TRANSPORT; JAPAN; MALE; ORAL DRUG ADMINISTRATION; PRIORITY JOURNAL; PROPRIOCEPTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RETINITIS PIGMENTOSA; VIBRATION SENSE; BLOOD; DRUG RESISTANCE; ELECTROPHYSIOLOGY; GENE EXPRESSION; GENETICS; MIDDLE AGED; MUTATION; NORTHERN BLOTTING; PATHOLOGY; PEDIGREE; SURAL NERVE;

AGED; BLOTTING, NORTHERN; CARRIER PROTEINS; DRUG RESISTANCE; ELECTROPHYSIOLOGY; FEMALE; FRIEDREICH ATAXIA; GENE EXPRESSION; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; RETINITIS PIGMENTOSA; SURAL NERVE; VITAMIN E;

EID: 0030610585     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410410621     Document Type: Article

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