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Article

Molecular characterization of SLC24A5 variants and evaluation of Nitisinone treatment efficacy in a zebrafish model of OCA6.

Pigment cell & melanoma research - 1 Jul 2020

Yousaf Sairah, Sethna Saumil, Chaudhary Muhammad A, Shaikh Rehan S, Riazuddin Saima, Ahmed Zubair M

Abstract excerpt

Skin pigmentation is a highly heterogeneous trait with diverse consequences worldwide. SLC24A5, encoding a potent K+ -dependent Na+ /Ca2+ exchanger, is among the known color-coding genes that participate in melanogenesis by maintaining pH in melanosomes. Deficient SLC24A5 activity results in oculocutaneous albinism (OCA) type 6 in humans. In this study, by utilizing a exome sequencing (ES) approach, we identified...

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Identifiers

PMID: 32274888
DOI: 10.1111/pcmr.12879
PMCID: PMC7269830

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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