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Deletion in the OA1 gene in a family with congenital X linked nystagmus

AIMS—To elucidate the molecular genetic defect of X linked congenital nystagmus associated with macular hypoplasia in three white males of a three generation family with clear features of ocular albinism in only one of them.
METHODS—A three generation family with congenital nystagmus following X lin...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Preising, M., de Laak, J.-P. O., Lorenz, B.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2001
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1724103/
https://ncbi.nlm.nih.gov/pubmed/11520764
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjo.85.9.1098
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