Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia.
作者信息
Gilbert-Dussardier B, Segues B, Rozet J M, Rabier D, Calvas P, de Lumley L, Bonnefond J P, Munnich A
机构信息
INSERM U 393, Department of Genetics, Hôpital des Enfants Malades, Paris.
出版信息
Hum Mutat. 1996;8(1):74-6. doi: 10.1002/(SICI)1098-1004(1996)8:1<74::AID-HUMU11>3.0.CO;2-O.
Abstract
摘要
Zotero 插件