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A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.
PURPOSE Autosomal recessive ocular albinism (AROA) is a group of genetic disorders in which reduced pigmentation of the eye is associated with decreased visual acuity, nystagmus, strabismus, and… Expand
Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.
Oculocutaneous albinism (OCA) is a genetically heterogeneous group of disorders characterized by absent or reduced pigmentation of the skin, hair, and eyes. In humans, four genes have been associated… Expand
Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.
- Ying Jin, S. Birlea, +22 authors R. Spritz
- Biology, Medicine
- The New England journal of medicine
- 6 May 2010
BACKGROUND Generalized vitiligo is an autoimmune disease characterized by melanocyte loss, which results in patchy depigmentation of skin and hair, and is associated with an elevated risk of other… Expand
The Slc35d3 gene, encoding an orphan nucleotide sugar transporter, regulates platelet-dense granules.
Platelet dense granules are lysosome-related organelles which contain high concentrations of several biologically important low-molecular-weight molecules. These include calcium, serotonin, adenine… Expand