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Article

Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy

18 Jan 2012

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 22258530
DOI: 10.1038/ejhg.2011.271

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Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophyPMID 22258530Read ↗

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De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.Semantic proximity Read ↗

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