Article
Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.
Human mutation - 1 Jan 1999
Oetting W S, King R A
Abstract excerpt
Albinism, caused by a deficiency of melanin pigment in the skin, hair, and eye (oculocutaneous albinism [OCA]), or primarily in the eye (ocular albinism [OA]), results from mutations in genes involved in the biosynthesis of melanin pigment. The lack of melanin pigment in the developing eye leads to fovea hypoplasia and abnormal routing of the optic nerves. These changes are responsible for the nystagmus,...
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