Friedreich's Ataxia: A New Mutation in Two Compound Heterozygous Siblings with Unusual Clinical Onset

被引：6
|
作者：
Lamba, Laura Doria [1 ]
Ciotti, Paola [3 ]
Giribaldi, Gaia
Di Maria, Emilio [3 ]
Varese, Alessandra [3 ]
Di Stadio, Mauro [2 ]
Schenone, Angelo [4 ]
Mandich, Paola [3 ]
Bellone, Emilia [3 ]
机构：
[1] Univ Genoa, Ist Giannina Gaslini, Div Neuropsichiatria Infantile, Dept Neurosci Ophthalmol & Genet,Pediat Neuropsyc, IT-16100 Genoa, Italy
[2] G Gaslini Inst Children, Operat Unit Orthoped, Genoa, Italy
[3] San Martino Hosp, Genet Operat Unit, Genoa, Italy
[4] San Martino Hosp, Neurol Operat Unit, Genoa, Italy
来源：
EUROPEAN NEUROLOGY | 2009年 / 61卷 / 04期
关键词：
POINT MUTATIONS; PHENOTYPE; DELETION; DISEASE; CHOREA;
D O I：
10.1159/000198417
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：240 / 243
页数：4
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