Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome

Annals of Neurology

Volumn 47, Issue 5, 2000, Pages 625-631

  Tsujino, Seiichi ^a   Kanazawa, Naomi ^a,b   Ohashi, Tohya ^c   Eto, Yoshikatsu ^c   Saito, Toyokazu ^d   Kira, Jun Ichi ^e   Yamada, Takeshi ^e  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^b KITASATO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d KITASATO UNIVERSITY HOSPITAL   (Japan)

^e KYUSHU UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AMMONIA; GENE PRODUCT; HOMOCITRULLINE; ORNITHINE; ORNT 1 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BRAIN DYSFUNCTION; CASE REPORT; CEREBELLAR ATAXIA; CITRULLINEMIA; COMA; GENE MUTATION; HOMOCITRULLINURIA; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYPERAMMONEMIA; HYPERORNITHINEMIA; JAPAN; MENTAL DEFICIENCY; PRIORITY JOURNAL; PYRAMIDAL TRACT; SPASTIC PARESIS; SYNDROME;

AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACID SEQUENCE; AMMONIA; ASIAN CONTINENTAL ANCESTRY GROUP; BIOLOGICAL TRANSPORT; CARRIER PROTEINS; CITRULLINE; DNA MUTATIONAL ANALYSIS; EXONS; HUMANS; JAPAN; MITOCHONDRIA; MOLECULAR SEQUENCE DATA; MUTATION; ORNITHINE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SYNDROME;

EID: 0034113334     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(200005)47:5<625::AID-ANA10>3.0.CO;2-Q     Document Type: Article

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