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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 |
Appears in Collections: | Journal Article |
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