Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase gene.

@article{Schnur1996TypeIO,
  title={Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase gene.},
  author={Rhonda E. Schnur and Bea Sellinger and Stuart A. Holmes and Peter Wick and Yvonne Tatsumura and Richard A. Spritz},
  journal={The Journal of investigative dermatology},
  year={1996},
  volume={106 5},
  pages={1137-40}
}
Type I oculocutaneous albinism is an autosomal recessive disorder in which the biosynthesis of melanin is reduced or absent in skin, hair, and eyes because of deficient activity of tyrosinase (EC 1.14.18.1). Type I oculocutaneous albinism is caused by mutations in the tyrosinase structural gene, TYR; however, no large TYR gene deletions have been identified previously in humans. Here we report a patient with type IB oculocutaneous albinism who is a compound heterozygote for TYR allele… CONTINUE READING
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