Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia

Human Mutation

Volumn 8, Issue 1, 1996, Pages 74-76

  Gilbert Dussardier, Brigitte ^a,b   Segues, Bertrand ^a   Rozet, Jean Michel ^a   Rabier, Daniel ^a   Calvas, Patrick ^c   De Lumley, Lionel ^b   Bonnefond, Jean Paul ^a   Munnich, Arnold ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b DUPUYTREN UNIVERSITY HOSPITAL   (France)

^c NONE

Author keywords

[No Author keywords available]

Indexed keywords

ORNITHINE CARBAMOYLTRANSFERASE;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; DNA DETERMINATION; ENZYME DEFICIENCY; FEMALE; GENE DUPLICATION; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; HYPERAMMONEMIA; MALE; POINT MUTATION; PRIORITY JOURNAL;

AGE OF ONSET; AMMONIA; FEMALE; HUMANS; INFANT, NEWBORN; LIVER; MALE; METABOLISM, INBORN ERRORS; MULTIGENE FAMILY; ORNITHINE CARBAMOYLTRANSFERASE; POINT MUTATION; SEQUENCE DELETION;

EID: 0029937073     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)8:1<74::AID-HUMU11>3.0.CO;2-O     Document Type: Article

References (28)

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