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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1998
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377018/
https://ncbi.nlm.nih.gov/pubmed/9529334
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