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A 3‐base pair in‐frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late‐onset hyperammonemic coma
Author(s) -
Ségues Bertrand,
Veber Pascale Saugier,
Rabier Daniel,
Calvas Patrick,
Saudubray JeanMarie,
GilbertDussardier Brigitte,
Bonnefont 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)8:4<373::aid-humu13>3.0.co;2-#
Subject(s) - biology , exon , genetics , ornithine transcarbamylase , ornithine transcarbamylase deficiency , gene , ornithine carbamoyltransferase , gene deletion , urea cycle , ornithine , arginine , amino acid , mutant