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A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature
BACKGROUND: The SLC29A3 gene, encoding a nucleoside transporter protein, is found in intracellular membranes. Based on the literatures, mutations in this gene cause a wide range of clinical manifestations including H syndrome, pigmented hypertrichosis with insulin dependent diabetes, Faisalabad hist...
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| Pubblicato in: | BMC Med Genet |
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| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BioMed Central
2019
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6716938/ https://ncbi.nlm.nih.gov/pubmed/31464584 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0879-7 |
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