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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Hauptverfasser: Zhang, Yu-hu, Tang, Bei-sha, Zhao, Ai-ling, Xia, Kun, Long, Zhi-gao, Guo, Ji-feng, Westaway, Shawn K., Hayflick, Susan J.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2005
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Article
Online Zugang: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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