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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Dis Markers
Hauptverfasser: Mittal, Rahul, Patel, Kunal, Mittal, Jeenu, Chan, Brandon, Yan, Denise, Grati, M'hamed, Liu, Xue Zhong
Format: Artigo
Sprache:Inglês
Veröffentlicht: Hindawi Publishing Corporation 2015
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4458296/
https://ncbi.nlm.nih.gov/pubmed/26089585
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2015/127013
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