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Phenotypic expression and founder effect of PANK2 c.1583C > T (p.T528M) mutation in Serbian pantothenate kinase-associated neurodegeneration patients
(Srpsko biološko društvo, Beograd, i dr., 2019)
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 ...