Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic

Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a form of Neurodegeneration with Brain Iron Accumulation (NBIA) associated with mutations in the pantothenate kinase 2 gene (PANK2). Pantothenate kinases catalyze the rate-limiting step of coenzyme A synthesis and Pank2 is the only pantothen...

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Detalles Bibliográficos
Autores principales: Schiessl-Weyer, Jasmin, Roa, Pedro, Laccone, Franco, Kluge, Britta, Tichy, Alexander, De Almeida Ribeiro, Euripedes, Prohaska, Rainer, Stoeter, Peter, Siegl, Claudia, Salzer, Ulrich
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4411072/
https://www.ncbi.nlm.nih.gov/pubmed/25915509
http://dx.doi.org/10.1371/journal.pone.0125861

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