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Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia
Author(s) -
Calvas Patrick,
Ségues Bertrand,
Rozet JeanMichel,
Rabier Daniel,
Bonnefond JeanPaul,
Munnich Arnold
Publication year - 1998
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/humu.1380110128
Subject(s) - ornithine transcarbamylase deficiency , humanities , ornithine transcarbamylase , hyperammonemia , biology , genetics , philosophy , urea cycle , amino acid , arginine , endocrinology