Article

Dopachrome tautomerase variants in patients with oculocutaneous albinism

2020-06-27

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> Albinism is a clinically and genetically heterogeneous condition. Despite analysis of the nineteen known genes, ∼30% patients remain unsolved. We aimed to identify new genes involved in albinism. <h4>Methods</h4> We sequenced a panel of genes with known or predicted involvement in melanogenesis in 230 unsolved albinism patients. <h4>Results</h4> We identified variants in the...

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Literature Corpus work: 64ee09f8-16c1-556f-9301-bf263400f525
DOI: 10.1101/2020.06.26.171223

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