Pigment Cell & Melanoma Research
@pcmr_wiley
Official journal of the International Federation of Pigment Cell Societies (IFPCS) and the Society for Melanoma Research (SMR). Published by Wiley.
ID: 1277725786582257667
https://onlinelibrary.wiley.com/journal/1755148x 29-06-2020 22:09:11
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In this study, Saito et al analyse a Japanese 🇯🇵 patient with a type of #oculocutaneous #albinism. They find a variant in their genome coding for SLC24A5 p.G200R. Then, they characterise this variant with a mouse model, which shows pigmentation defects! onlinelibrary.wiley.com/doi/10.1111/pc…