Association of PRPS1 Mutations with Disease Phenotypes

Phosphoribosylpyrophosphate synthetase 1 (PRPS1) codes for PRS-I enzyme that catalyzes the first step of nucleotide synthesis. PRPS1 gene mutations have been implicated in a number of human diseases. Recently, new mutations in PRPS1 have been identified that have been associated with novel phenotype...

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Detalles Bibliográficos
Autores principales: Mittal, Rahul, Patel, Kunal, Mittal, Jeenu, Chan, Brandon, Yan, Denise, Grati, M'hamed, Liu, Xue Zhong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4458296/
https://www.ncbi.nlm.nih.gov/pubmed/26089585
http://dx.doi.org/10.1155/2015/127013

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4458296/
https://www.ncbi.nlm.nih.gov/pubmed/26089585
http://dx.doi.org/10.1155/2015/127013

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