Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports
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چکیده
منابع مشابه
A Novel Nonsense mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration
Pantothenate kinase- associated neurodegeneration (PKAN) syndrome is a rare autosomal recessive disorder characterized by progressive extrapyramidal dysfunction and iron accumulation in the brain and axonal spheroids in the central nervous system. It has been shown that the disorder is caused by mutations in PANK2 gene which codes for a mitochondrial enzyme participating in coenzyme A biosynthe...
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ژورنال
عنوان ژورنال: BMC Medical Genetics
سال: 2017
ISSN: 1471-2350
DOI: 10.1186/s12881-017-0439-y