Common dominant-negative spectrum of SLC45A2 mutations in OCA4 defined by endoplasmic reticulum retention.

Abstract excerpt

Oculocutaneous albinism type 4 (OCA4) is traditionally classified as an autosomal recessive disorder. Although the human Y70H variant has recently been suggested to exert a dominant-negative effect, it remains unknown whether this represents an isolated rarity or a manifestation of a broader pathogenic principle. Here, we identified a common dominant-negative SLC45A2 mutation spectrum based on its intracellular...

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