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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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Bibliographische Detailangaben
Veröffentlicht in:Pigment Cell Melanoma Res
Hauptverfasser: Yousaf, Sairah, Sethna, Saumil, Chaudhary, Muhammad A., Shaikh, Rehan S., Riazuddin, Saima, Ahmed, Zubair M.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2020
Schlagworte:
Online Zugang: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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