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Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia
Author(s) -
GilbertDussardier Brigitte,
Segues Bertrand,
Rozet JeanMichel,
Rabier Daniel,
Calvas Patrick,
de Lumley Lionel,
Bonnefond JeanPaul,
Munnich Arnold
Publication year - 1996
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1996)8:1<74::aid-humu11>3.0.co;2-o
Subject(s) - ornithine transcarbamylase deficiency , dup , hyperammonemia , ornithine carbamoyltransferase , ornithine transcarbamylase , humanities , biology , gene duplication , genetics , philosophy , gene , urea cycle , ornithine , amino acid , arginine , endocrinology