Title : Novel Compound Heterozygous Mutation in PANK2 in a Patient with an Atypical Form of Pantothenate Kinase Associated Neurodegeneration and His Family.

Pub. Date : 2022 Mar-Apr

PMID : 35532650






3 Functional Relationships(s)
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Sentence
Compound Name
Protein Name
Organism
1 Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal-recessive disease characterized by iron accumulation in the brain due to PANK2 gene mutation. Iron pantothenate kinase 2 Homo sapiens
2 Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal-recessive disease characterized by iron accumulation in the brain due to PANK2 gene mutation. Iron pantothenate kinase 2 Homo sapiens
3 Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal-recessive disease characterized by iron accumulation in the brain due to PANK2 gene mutation. Iron pantothenate kinase 2 Homo sapiens