Application | Comment | Organism |
---|---|---|
medicine | pantothenate kinase-associated neurodegeneration is a progressive neurodegenerative disorder with autosomal recessive inheritance. The major symptoms of PKAN include the onset before the age of 20 years, progressive pyramidal and extrapyramidal signs, retinitis pigmentosa, optic atrophy, dementia, and iron depositions in the globus pallidus. Identification of mutations of PANK2 gene in patients with proven molecular diagnosis of pantothenate kinase-associated neurodegeneration | Homo sapiens |
Organism | UniProt | Comment | Textmining |
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Homo sapiens | - |
- |
- |
Synonyms | Comment | Organism |
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PanK2 | - |
Homo sapiens |