Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene

Nature Genetics

Volumn 29, Issue 2, 2001, Pages 184-188

  Date, Hidetoshi ^a   Onodera, Osamu ^a   Tanaka, Hajime ^a   Iwabuchi, Kiyoshi ^b   Uekawa, Kazutoshi ^c   Igarashi, Shuichi ^a   Koike, Ryoko ^a   Hiroi, Tadashi ^d   Yuasa, Tatsuhiko ^e   Awaya, Yutaka ^f   Sakai, Tetsuo ^g   Takahashi, Tatsuya ^b   Nagatomo, Hideki ^h   Sekijima, Yoshiki ⁱ   Kawachi, Izumi ^a   Takiyama, Yoshihisa ^j   Nishizawa, Masatoyo ^k   Fukuhara, Nobuyoshi ^l   Saito, Kayoko ^m   Sugano, Sumio ⁿ   Tsuji, Shoji ^a   more..

^a NIIGATA UNIVERSITY   (Japan)

^b KANAGAWA REHABILITATION CENTER   (Japan)

^c National Hospital Organization Kumamotominami National Hospital   (Japan)

^d Hosoki Hospital   (Japan)

^e NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^f Seibo Hospital   (Japan)

^g National Chikugo Hospital   (Japan)

^h YOKOHAMA CITY UNIVERSITY MEDICAL CENTER   (Japan)

ⁱ SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^j JICHI MEDICAL UNIVERSITY   (Japan)

^k INTERNATIONAL UNIVERSITY OF HEALTH AND WELFARE   (Japan)

^l National Saigata Medical Center   (Japan)

^m TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

ⁿ UNIVERSITY OF TOKYO   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

APRAXIA; ARTICLE; ATAXIA; CHROMOSOME 9; CLINICAL FEATURE; FEMALE; GENE LOCUS; GENE MUTATION; HUMAN; MALE; OCULAR MOTOR APRAXIA; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; ANIMALS; APRAXIAS; ATAXIA; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 9; DNA-BINDING PROTEINS; FEMALE; HUMANS; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; OCULOMOTOR MUSCLES; PEDIGREE; PHYLOGENY; SEQUENCE HOMOLOGY, AMINO ACID; SERUM ALBUMIN;

ATAXIA;

EID: 0034790947     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1001-184     Document Type: Article

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