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P60 A case of autoimmune inflammatory myositis in a patient with SLC29A3 spectrum disorder
INTRODUCTION/BACKGROUND: The SLC29A3 gene encodes the equilibrative nucleoside transporter hENT3. SLC29A3 spectrum disorder, an autosomal recessive disorder caused by mutations in this gene, is a rare multisystem disorder resulting in cutaneous manifestations (hyperpigmented, hypertrichotic and indu...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9515752/ http://dx.doi.org/10.1093/rap/rkac067.060 |