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Article

A Dosage-Dependent Dominant-Negative Mechanism of SLC45A2(W74R) in Autosomal Dominant Oculocutaneous Albinism Revealed by Zebrafish Modeling.

Translational vision science & technology - 2 Feb 2026

Surl Dongheon, Choi Tae-Ik, Park Ji-Won, Don Dilan Wellalage, Kim Tae Young, Thomas Mervyn G, Park Jong-Su, Wei Xiangyun, Bae Young-Ki, Han Jinu, Kim Cheol-Hee

Abstract excerpt

Purpose: To investigate the clinical characteristics of autosomal dominant oculocutaneous albinism (OCA) and functionally validate the heterozygous SLC45A2(W74R) variant using a zebrafish model. Methods: Three members of a Korean family with OCA underwent comprehensive clinical examinations. Targeted panel and genome sequencing were performed on the proband, and Sanger sequencing was performed on all affected...

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Source

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Identifiers

PMID: 41705770
DOI: 10.1167/tvst.15.2.22
PMCID: PMC12924142

Genes

SLC45A2

Variants

Provenance

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