Heterozygous pathogenic mutation in the GBE gene in a non-Jewish patient with adult polyglucosan body disease

被引：0

作者：

Massa, Roberto

Bruno, Claudio

Martorana, Alessandro

Terracciano, Chiara

De Stefano, Nicola

Cassandrini, Denise

van Diggelen, Otto P.

Bernardi, Giorgio

Federico, Antonio

机构：

[1] Univ Roma Tor Vergata, Dipartimento Neurosci, Rome, Italy

[2] Univ Genoa, Dipartimento Pediat, Genoa, Italy

[3] Ist Giannina Gaslini, Dipartimento Neurosci & Riabilitaz, I-16148 Genoa, Italy

[4] Univ Siena, Ist Sci Neurol, Unita Operat Malattie Neurometab, I-53100 Siena, Italy

[5] Erasmus Med Ctr, Dept Clin Genet, Rotterdam, Netherlands

来源：

NEUROMUSCULAR DISORDERS | 2006年 / 16卷

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中图分类号：

R74 [神经病学与精神病学];

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页码：S69 / S69

页数：1

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