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

Author

DATE, Hidetoshi¹ ; ONODERA, Osamu¹ ; SAKAI, Tetsuo⁷ ; TAKAHASHI, Tatsuya² ; NAGATOMO, Hideki⁸ ; SEKIJIMA, Yoshiki⁹ ; KAWACHI, Izumi¹ ; TAKIYAMA, Yoshihisa¹⁰ ; NISHIZAWA, Masatoyo¹¹ ; FUKUHARA, Nobuyoshi¹² ; SAITO, Kayoko¹³ ; SUGANO, Sumio¹⁴ ; TANAKA, Hajime¹ ; TSUJI, Shoji¹ ; IWABUCHI, Kiyoshi² ; UEKAWA, Kazutoshi³ ; IGARASHI, Shuichi¹ ; KOIKE, Ryoko¹ ; HIROI, Tadashi⁴ ; YUASA, Tatsuhiko⁵ ; AWAYA, Yutaka⁶
[1] Department of Neurology, Brain Research Institute, Niigata University, 1 Asahimachi, Niigata 951, Japan
[2] Department of Neurology and Psychiatry, Kanagawa Rehabilitation Center, Kanagawa, Japan
[3] Department of Neurology, National Kumamoto Minami Hospital, Kumamoto, Japan
[4] Hosoki Hospital, Kouchi, Japan
[5] Department of Neurology, Kohnodai Hospital, National Center of Neurology and Psychiatry, Japan
[6] Department of Pediatrics, Seibo Hospital, Tokyo, Japan
[7] National Chikugo Hospital, Fukuoka, Japan
[8] Department of Psychiatry, Medical Center of Yokohama City University, Kanagawa, Japan
[9] Third Department of Medicine, Shinshu University School of Medicine, Nagano, Japan
[10] Department of Neurology, Jichi Medical School, Minamikawachi, Tochigi, Japan
[11] Center for Neurological Diseases, International University of Health and Welfare, Tochigi, Japan
[12] Department of Neurology, National Saigata Hospital, Niigata, Japan
[13] Department of Pediatrics, Tokyo Women's Medical University School of Medicine, Tokyo, Japan
[14] Department of Virology, Institute of Medical Science, University of Tokyo, Japan

Source

Nature genetics. 2001, Vol 29, Num 2, pp 184-188 ; ref : 28 ref

CODEN

NGENEC

ISSN

1061-4036

Scientific domain

Genetics

Publisher

Nature Publishing Group, London

Publication country

United Kingdom

Document type

Article

Language

English

Keyword (fr)

Albumine Apraxie Ataxie Gène Hypoalbuminémie Mutation Précoce Précocité Système nerveux central pathologie Système nerveux pathologie Trouble neurologique Encéphale pathologie Trouble métabolisme

Keyword (en)

Albumin Apraxia Ataxia Gene Hypoalbuminemia Mutation Early Earliness Central nervous system disease Nervous system diseases Neurological disorder Cerebral disorder Metabolic disorder

Keyword (es)

Albúmina Apraxia Ataxia Gen Hipoalbuminemia Mutación Precoz Precocidad Sistema nervosio central patología Sistema nervioso patología Trastorno neurológico Encéfalo patología Trastorno metabolismo

Classification

Pascal

002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology / 002A04C Molecular genetics / 002A04C02 Genes. Genome

Discipline

Molecular and cell biology

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

14159337

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS