New pathogenic mutation of chorea-acanthocytosis.
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DOI: 10.1016/j.nrl.2018.03.012
Abstract: Chorea-acanthocytosis (ChA) is an autosomal recessive disease caused by a mutation in the VPS13A gene, located on chromosome 9q21 and coding for the protein chorein. Chorein is a protein of 3000 amino acids, involved in… read more here.
Keywords: pathogenic mutation; chorea acanthocytosis; acanthocytosis; new pathogenic ... See more keywords