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 phenotyp...
| Main Authors: | , , , , , , |
|---|---|
| Format: | Online |
| Language: | English |
| Published: |
Hindawi Publishing Corporation
2015
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4458296/ |