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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
Publikováno v:
Human Molecular Genetics; Oct2021, Vol. 30 Issue 19, p1811-1832, 22p