A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency.

Authors :: Zimmer KP
Matsuura T
Colombo JP
Koch HG
Ullrich K
Deufel T
Harms E
Matsuda I
Source :: Journal of inherited metabolic disease [J Inherit Metab Dis] 1995; Vol. 18 (3), pp. 356-7.
Publication Year :: 1995

Subjects :: Codon
Humans
Infant, Newborn
Male
Polymerase Chain Reaction
Ornithine Carbamoyltransferase genetics
Ornithine Carbamoyltransferase Deficiency Disease
Point Mutation

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