The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism.

doi:10.1002/ajmg.a.32654

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Article

The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism.

American journal of medical genetics. Part A - 1 Mar 2009

Oetting William S, Pietsch Jacy, Brott Marcia J, Savage Sarah, Fryer James P, Summers C Gail, King Richard A

Abstract excerpt

Mutations in the gene for tyrosinase, the key enzyme in melanin synthesis, are responsible for oculocutaneous albinism type 1, and more than 100 mutations of this gene have been identified. The c.1205G > A variant of the tyrosinase gene (rs1126809) predicts p.R402Q and expression studies show thermolabile enzyme activity for the variant protein. The Q402 allele has been associated with autosomal recessive ocular...

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PMID: 19208379
DOI: 10.1002/ajmg.a.32654

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