Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity

Butterfly-shaped pigment dystrophy is an eye disease characterized by lesions in the macula that can resemble the wings of a butterfly. Here, we report the identification of heterozygous missense mutations in the α-catenin 1 (CTNNA1) gene in three families with butterfly-shaped pigment dystrophy. In...

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Detalles Bibliográficos
Autores principales: Saksens, Nicole T.M., Krebs, Mark P., Schoenmaker-Koller, Frederieke E., Hicks, Wanda, Yu, Minzhong, Shi, Lanying, Rowe, Lucy, Collin, Gayle B., Charette, Jeremy R., Letteboer, Stef J., Neveling, Kornelia, van Moorsel, Tamara W., Abu-Ltaif, Sleiman, De Baere, Elfride, Walraedt, Sophie, Banfi, Sandro, Simonelli, Francesca, Cremers, Frans P.M., Boon, Camiel J.F., Roepman, Ronald, Leroy, Bart P., Peachey, Neal S., Hoyng, Carel B., Nishina, Patsy M., den Hollander, Anneke I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4787620/
https://www.ncbi.nlm.nih.gov/pubmed/26691986
http://dx.doi.org/10.1038/ng.3474

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