The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

Nature Genetics

Volumn 22, Issue 2, 1999, Pages 159-163

  Kobayashi, Keiko ^a   Sinasac, David S ^b,c   Iijima, Mikio ^a   Boright, Andrew P ^c   Begum, Laila ^a   Lee, Jeffrey R ^c   Yasuda, Tomotsugu ^a   Ikeda, Sayaka ^a   Hirano, Ryuki ^a   Terazono, Hiroki ^a,d   Crackower, Michael A ^b,c   Kondo, Ikuko ^e   Tsui, Lap Chee ^b,c   Scherer, Stephen W ^b,c   Saheki, Takeyori ^a  

^a KAGOSHIMA UNIVERSITY   (Japan)

^b UNIVERSITY OF TORONTO   (Canada)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d Yagi Clinic   (Japan)

^e EHIME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININOSUCCINATE SYNTHASE; CALCIUM; CARRIER PROTEIN; PROTEIN;

ADULT; ARTICLE; BRAIN EDEMA; CHROMOSOME 7Q; CITRULLINEMIA; CLINICAL ARTICLE; COMA; CONSCIOUSNESS DISORDER; ENZYME DEFICIENCY; GENE LOCATION; GENE MUTATION; HUMAN; MITOCHONDRION; NUCLEOTIDE SEQUENCE; ONSET AGE; PRIORITY JOURNAL; UREA CYCLE;

ADULT; AGE OF ONSET; AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACID SEQUENCE; ANIMALS; ARGININOSUCCINATE SYNTHASE; BRAIN EDEMA; CAENORHABDITIS ELEGANS; CALCIUM-BINDING PROTEINS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 9; CITRULLINE; CONSANGUINITY; CONSERVED SEQUENCE; FEMALE; GENES, RECESSIVE; GENETIC MARKERS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MEMBRANE TRANSPORT PROTEINS; MITOCHONDRIA, LIVER; MITOCHONDRIAL PROTEINS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN STRUCTURE, SECONDARY; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID; SYNDROME; TRANSCRIPTION, GENETIC; UREA;

EID: 0033037729     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/9667     Document Type: Article

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