A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma.

作者信息

Ségues B, Veber P S, Rabier D, Calvas P, Saudubray J M, Gilbert-Dussardier B, Bonnefont J P, Munnich A

机构信息

Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U-393, Département de Pédiatrie, Hôpital des Enfants-Malades, Paris.

出版信息

Hum Mutat. 1996;8(4):373-4. doi: 10.1002/(SICI)1098-1004(1996)8:4<373::AID-HUMU13>3.0.CO;2-#.

DOI:10.1002/(SICI)1098-1004(1996)8:4<373::AID-HUMU13>3.0.CO;2-#

PMID:8956045

Abstract

摘要

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