• DOI:10.1038/NG0195-92
Corpus ID: 35886906

Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism

@article{Fukai1995AutosomalRO,
  title={Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism},
  author={K. Fukai and S. Holmes and N. Lucchese and V. Siu and R. Weleber and R. Schnur and R. Spritz},
  journal={Nature Genetics},
  year={1995},
  volume={9},
  pages={92-95}
}

K. Fukai, S. Holmes, +4 authors R. Spritz

Published 1995

Biology, Medicine

Nature Genetics

Autosomal recessive ocular albinism (AROA) is a disorder characterized by reduced pigmentation of the retina and iris, hypoplastic fovea, variably reduced visual acuity and nystagmus. Pigmentation of the skin and hair is normal, but is usually slightly lighter than in unaffected sibs. We analysed 12 unrelated patients with AROA, and found that two had abnormalities of the tyrosinase (TYR) gene. These two patients were each a compound heterozygote for a different pathologic mutant allele and an… CONTINUE READING

View on Nature

ncbi.nlm.nih.gov

Save to Library

Create Alert

Cite

Launch Research Feed