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A Novel PRPS1 Mutation in a Japanese Patient with CMTX5

The PRPS1 gene encodes phosphoribosyl pyrophosphate synthetase 1 (PRS-1). The phenotypes associated with PRPS1 mutations include DFN2 (mild PRS-1 deficiency), X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) (moderate PRS-1 deficiency), Arts syndrome (severe PRS-1 deficiency), and PRS-1 superacti...

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Detalles Bibliográficos
Autores principales:	Shirakawa, Shunichi, Murakami, Tatsufumi, Hashiguchi, Akihiro, Takashima, Hiroshi, Hasegawa, Hiroshi, Ichida, Kimiyoshi, Sunada, Yoshihide
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Japanese Society of Internal Medicine 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259300/ https://www.ncbi.nlm.nih.gov/pubmed/34803094 http://dx.doi.org/10.2169/internalmedicine.8029-21

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