Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene

BACKGROUND: Neurodegeneration with brain iron accumulation describes a group of rare heterogeneous progressive neurodegenerative disorders characterized by excessive iron accumulation in the basal ganglia region. Pantothenate kinase-associated neurodegeneration (PKAN) is a major form of this disease...

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Detalles Bibliográficos
Autores principales: Yang, Dahae, Cho, Sanghyun, Cho, Sung Im, Kim, Manjin, Seong, Moon-Woo, Park, Sung Sup
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8896100/
https://www.ncbi.nlm.nih.gov/pubmed/35246191
http://dx.doi.org/10.1186/s13023-022-02251-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8896100/
https://www.ncbi.nlm.nih.gov/pubmed/35246191
http://dx.doi.org/10.1186/s13023-022-02251-7

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