OA1 mutations and deletions in X-linked ocular albinism.

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 s...

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 1998
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377018/
https://ncbi.nlm.nih.gov/pubmed/9529334
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