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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Detalles Bibliográficos
Autores principales: 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
Lenguaje:Inglês
Publicado: 1998
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377018/
https://ncbi.nlm.nih.gov/pubmed/9529334
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