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Publikováno v:
Human Molecular Genetics
Episodic ataxia type 2 (EA2) is a rare autosomal dominant disorder characterized by motor incoordination, paroxysmal dystonia, vertigo, nystagmus and more recently cognitive deficits. To date over 100 mutations in the CACNA1A gene have been identifie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::897e1612819596c6461ec41e6c87a499
https://pubmed.ncbi.nlm.nih.gov/34077522
https://pubmed.ncbi.nlm.nih.gov/34077522
