Ten Novel Mutations of the Omithine Transcarbaniylase (OTC) Gene in OTC Deficiency

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Shimadzu, Mitsunobu ^a   Matsumoto, Hiroshi ^a   Matsuura, Toshinobu ^b   Kobayashi, Keiko ^c   Komaki, Satoru ^b   Kiwaki, Kohji ^b   Hoshide, Ryuuji ^b   Endo, Fumio ^b   Sahekia, Takeyori ^c   Matsuda, Ichiro ^b  

^a LSI MEDIENCE CORPORATION   (Japan)

^b KUMAMOTO UNIV SCHOOL OF MEDICINE   (Japan)

^c KAGOSHIMA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DNA; MESSENGER RNA; MITOCHONDRIAL ENZYME; ORNITHINE CARBAMOYLTRANSFERASE;

ALLELE; ARTICLE; BLOOD; CHILD; CLINICAL ARTICLE; ENZYME DEFICIENCY; EXON; FEMALE; GENE MAPPING; GENE MUTATION; GENOME; HUMAN; HUMAN TISSUE; LIVER; MALE; MISSENSE MUTATION; NEWBORN; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; AMINO ACID SEQUENCE; CHEMISTRY; GENE DELETION; GENE EXPRESSION REGULATION; GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; POINT MUTATION;

AGE OF ONSET; AMINO ACID SEQUENCE; BASE SEQUENCE; DNA; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; FEMALE; HUMANS; MALE; MUTAGENESIS, INSERTIONAL; MUTATION; MUTATION, MISSENSE; ORNITHINE CARBAMOYLTRANSFERASE; POINT MUTATION; SEQUENCE DELETION;

EID: 0031985539     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110103     Document Type: Article

References (15)

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