Diagnosis of ornithine transcarbamylase deficiency secondary to p.Leu301Phe mutation in an adult patient

被引：2

作者：

Morel, N. ^{[1
]}

Corne, C. ^{[2
]}

Aquaviva, C. ^{[3
]}

Besson, G. ^{[1
]}

机构：

[1] Univ Hosp Grenoble, Dept Neurol, F-38043 Grenoble 9, France

[2] Univ Hosp Grenoble, Genet & Mol Biochem Dept, F-38043 Grenoble 09, France

[3] MHM, Lab Ctr Reference, Ctr Biol & Pathol Est, F-69677 Bron, France

来源：

REVUE NEUROLOGIQUE | 2012年 / 168卷 / 03期

关键词：

UREA CYCLE DISORDERS; POLYMORPHISMS; GENE;

D O I：

10.1016/j.neurol.2011.06.008

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：296 / 297

页数：2

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