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Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy

BACKGROUND: X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is caused by mutations in the gene encoding phosphoribosyl pyrophosphate synthetase I (PRPS1). There has been only one case report of CMTX5 patients. The aim of this study was to identify the causative gene in a family with CMTX with pe...

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Detalles Bibliográficos
Autores principales:	Park, Jin, Hyun, Young Se, Kim, Ye Jin, Nam, Soo Hyun, Kim, Sung-hee, Hong, Young Bin, Park, Jin-Mo, Chung, Ki Wha, Choi, Byung-Ok
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Korean Neurological Association 2013
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3840141/ https://www.ncbi.nlm.nih.gov/pubmed/24285972 http://dx.doi.org/10.3988/jcn.2013.9.4.283

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