Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia

Episodic Ataxias (EAs) are a small group (EA1–EA8) of complex neurological conditions that manifest as incidents of poor balance and coordination. Diagnostic testing cannot always find causative variants for the phenotype, however, and this along with the recently proposed EA type 9 (EA9), suggest t...

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Principais autores:	Neven Maksemous, Heidi G. Sutherland, Robert A. Smith, Larisa M. Haupt, Lyn R. Griffiths
Formato:	Artigo
Idioma:	Inglês
Publicado:	MDPI AG 2020-05-01
Series:	Biomedicines
Assuntos:	episodic ataxia whole exome sequencing acetazolamide
Acceso en liña:	https://www.mdpi.com/2227-9059/8/5/134
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