Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Nishiyori, Atsushi ^a   Yoshino, Makoto ^a   Tananari, Yoshifumi ^a   Matsuura, Toshinobu ^b   Hoshide, Ryuuji ^b   Mastuda, Ichiro ^b   Mori, Masataka ^b   Kato, Hirohisa ^a  

^a KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b KUMAMOTO UNIV SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ORNITHINE CARBAMOYLTRANSFERASE; AMMONIA; ASPARTIC ACID; DNA; MESSENGER RNA; TYROSINE;

ARTICLE; CASE REPORT; CODON; GENE MUTATION; GENETIC LINKAGE; HUMAN; HYPERAMMONEMIA; MALE; NUCLEIC ACID BASE SUBSTITUTION; ONSET AGE; PATHOGENESIS; PRIORITY JOURNAL; AMINO ACID SUBSTITUTION; ANIMAL; BLOOD; CELL STRAIN COS1; CHEMISTRY; FATALITY; GENETICS; METABOLISM; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; POINT MUTATION; SINGLE STRAND CONFORMATION POLYMORPHISM;

AGE OF ONSET; AMINO ACID SUBSTITUTION; AMMONIA; ANIMALS; ASPARTIC ACID; COS CELLS; DNA; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; HUMANS; MALE; MIDDLE AGED; MUTATION; ORNITHINE CARBAMOYLTRANSFERASE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA, MESSENGER; TYROSINE;

EID: 0031975355     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110144     Document Type: Article

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