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A NOVEL COMPLEX MUTATION EVENT IN THE PERIPHERIN/RDS GENE IN A FAMILY WITH RETINAL PATTERN DYSTROPHY
Autor:
Isaak Schipper, Bojan Pajic, Ernst R. Büchi, Christoph KRYENBüHL, Maike Weigell-Weber, Martin Hergersberg, Roland Spiegel
Publikováno v:
Retina. 26:947-953
PURPOSE To report a complex mutation in the peripherin/RDS gene found in a family in whom retinal pattern dystrophy is segregating as an autosomal dominant trait. METHODS Clinical data were collected from family members of a large Swiss family affect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdb9c615784d6efb742abf43d19e59c8
https://doi.org/10.1097/01.iae.0000250010.60908.e3
https://doi.org/10.1097/01.iae.0000250010.60908.e3
