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Molecular characterization of SLC24A5 variants and evaluation of Nitisinone treatment efficacy in a zebrafish model of OCA6
Skin pigmentation is a highly heterogeneous trait with diverse consequences worldwide. SLC24A5, encoding a potent K(+)-dependent Na(+)/Ca(2+) exchanger, is among the known color-coding genes that participate in melanogenesis by maintaining pH in melanosomes. Deficient SLC24A5 activity results in ocu...
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| Vydáno v: | Pigment Cell Melanoma Res |
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| Hlavní autoři: | , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2020
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7269830/ https://ncbi.nlm.nih.gov/pubmed/32274888 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/pcmr.12879 |
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