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A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency
Author(s) -
Zimmer K. P.,
Matsuura T.,
Colombo J. P.,
Koch H. G.,
Ullrich K.,
Deufel T.,
Harms E.,
Matsuda I.
Publication year - 1995
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf00710430
Subject(s) - medicine , ornithine transcarbamylase deficiency , point mutation , humanities , pediatrics , mutation , genetics , philosophy , gene , biology , urea cycle , amino acid , arginine
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