Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter

Nature Genetics

Volumn 21, Issue 1, 1999, Pages 91-94

  Nezu, Jun Ichi ^a   Tamai, Ikumi ^b   Oku, Asuka ^a   Ohashi, Rikiya ^b   Yabuuchi, Hikaru ^b   Hashimoto, Noriyoshi ^b   Nikaido, Hiroko ^b   Sai, Yoshimichi ^b   Koizumi, Akio ^c   Shoji, Yutaka ^c   Takada, Goro ^c   Matsuishi, Toyojiro ^d   Yoshino, Makoto ^d   Kato, Hirohisa ^d   Ohura, Toshihiro ^e   Tsujimoto, Gozoh ^f   Hayakawa, Jun Ichiro ^b   Shimane, Miyuki ^a   Tsuji, Akira ^b,g  

^a CHUGAI PHARMACEUTICAL CO LTD   (Japan)

^b KANAZAWA UNIVERSITY   (Japan)

^c AKITA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^g JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE;

ANIMAL MODEL; ARTICLE; CARDIOMYOPATHY; CARNITINE DEFICIENCY; GENE LOCUS; GENE MUTATION; HYPERAMMONEMIA; HYPOGLYCEMIA; MOUSE; MYOPATHY; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CARNITINE; CARRIER PROTEINS; DNA, COMPLEMENTARY; FEMALE; HUMANS; IONS; MALE; MEMBRANE PROTEINS; MICE; MOLECULAR SEQUENCE DATA; MUTATION; ORGANIC CATION TRANSPORT PROTEINS; PEDIGREE; SODIUM;

ANIMALIA;

EID: 0032953645     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/5030     Document Type: Article

References (21)

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