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Novel Compound Heterozygous Mutations in the PANK2 Gene in a Chinese Patient With Atypical Pantothenate Kinase-Associated Neurodegeneration
We investigated the presence of mutations in the pantothenate kinase (PANK2) gene in a 27-year-old male Chinese patient with atypical pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Automated DNA sequence analyses revealed compound heterozygous mutation...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2005
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2105744/ https://ncbi.nlm.nih.gov/pubmed/15747360 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mds.20408 |
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