Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene
The PRPS1 gene, located on Xq22.3, encodes phosphoribosyl-pyrophosphate synthetase (PRPS), a key enzyme in de novo purine synthesis. Three clinical phenotypes are associated with loss-of-function PRPS1 variants and decreased PRPS activity: Arts syndrome (OMIM: 301835), Charcot–Marie–Tooth disease ty...
Kaydedildi:
| Asıl Yazarlar: | , , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Elsevier
2020-12-01
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| Seri Bilgileri: | Molecular Genetics and Metabolism Reports |
| Konular: | |
| Online Erişim: | http://www.sciencedirect.com/science/article/pii/S2214426920301233 |
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