Please use this identifier to cite or link to this item: https://biore.bio.bg.ac.rs/handle/123456789/1091
Title: Phenotypic expression and founder effect of PANK2 c.1583C > T (p.T528M) mutation in Serbian pantothenate kinase-associated neurodegeneration patients
Authors: Svetel, Marina
Hartig, Monika
Cvetković, Dragana 
Beaubois, Cyrielle
Maksić, Jasmina
Novaković, Ivana
Krajinović, Maja
Kostić, Vladimir
Keywords: Founder effect;PANK2 mutation;Phenotype;PKAN
Issue Date: 1-Jan-2019
Rank: M23
Publisher: Institut za Bioloska Istrazivanja
Journal: Archives of Biological Sciences
Abstract: 
Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder characterized by dystonia, parkinsonism, cognitive and visual impairment, and iron accumulation in the brain. Many cases of PKAN result from mutations in the PANK2 gene that encodes pantothenate kinase 2, a key regulatory enzyme in the biosynthesis of coenzyme A. We previously detected six Serbian patients w...
URI: https://biore.bio.bg.ac.rs/handle/123456789/1091
ISSN: 0354-4664
DOI: 10.2298/ABS181227009S
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