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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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Asıl Yazarlar: | , , , , , , , , |
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Materyal Türü: | Artigo |
Dil: | Inglês |
Baskı/Yayın Bilgisi: |
Korean Neurological Association
2013
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Konular: | |
Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3840141/ https://ncbi.nlm.nih.gov/pubmed/24285972 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3988/jcn.2013.9.4.283 |
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