Heterozygous VPS13A and PARK2 Mutations in a Patient with Parkinsonism and Seizures
Heterozygous VPS13A and PARK2 Mutations in a Patient with Parkinsonism and Seizures
About this item
Full title
Author / Creator
Publisher
Basel, Switzerland: S. Karger AG
Journal title
Language
English
Formats
Publication information
Publisher
Basel, Switzerland: S. Karger AG
Subjects
More information
Scope and Contents
Contents
Abstract
Neuroacanthocytosis (NA) is a diverse group of disorders in which nervous system abnormalities co-occur with irregularly shaped red blood cells called acanthocytes. Chorea-acanthocytosis is the most common of these syndromes and is an autosomal recessive disease caused by mutations in the vacuolar protein sorting 13A (VPS13A) gene. We r...
Alternative Titles
Full title
Heterozygous VPS13A and PARK2 Mutations in a Patient with Parkinsonism and Seizures
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_96391b744ee14364a67c070173ca3fdd
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_96391b744ee14364a67c070173ca3fdd
Other Identifiers
ISSN
1662-680X
E-ISSN
1662-680X
DOI
10.1159/000515805
