Article
OA1 mutations and deletions in X-linked ocular albinism.
American journal of human genetics - 1 Apr 1998
Schnur R E, Gao M, Wick P A, Keller M, Benke P J, Edwards M J, Grix A W, Hockey A, Jung J H, Kidd K K, Kistenmacher M, Levin A V, Lewis R A, Musarella M A, Nowakowski R W, Orlow S J, Pagon R S, Pillers D A, Punnett H H, Quinn G E, Tezcan K, Wagstaff J, Weleber R G
Abstract excerpt
X-linked ocular albinism (OA1), Nettleship-Falls type, is characterized by decreased ocular pigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity. Affected males usually demonstrate melanin macroglobules on skin biopsy. We now report results of deletion and mutation screening of the full-length OA1 gene in 29 unrelated North American and Australian X-linked ocular albinism (OA)...
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