Retinal dystrophies and variants in PRPH2

Retinal dystrophies and variants in PRPH2

ABSTRACT | This report presents three patients diagnosed with macular dystrophies with variants in PRPH2. Peripherin-2, the protein of this gene, is important in the morphogenesis and stabilization of the photoreceptor outer segment. Peripherin-2 deficiencies cause cellular apoptosis. Moreover, path...

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Bibliographic Details
Main Authors: Mariana Matioli da Palma, Daniel Martin, Mariana Vallim Salles, Fabiana Louise Teixeira Motta, Suel Abujamra, Juliana Maria Ferraz Sallum
Format: Article
Language:English
Published: Conselho Brasileiro de Oftalmologia
Series:Arquivos Brasileiros de Oftalmologia
Subjects:
Degeneração retiniana
Técnicas de genotipagem
Distrofia macular viteliforme
Retinite pigmentosa
Genética
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492019000200158&lng=en&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492019000200158&lng=en&tlng=en

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