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...
Main Authors: | , , , , , |
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Format: | Article |
Language: | English |
Published: |
Conselho Brasileiro de Oftalmologia
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Series: | Arquivos Brasileiros de Oftalmologia |
Subjects: | |
Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492019000200158&lng=en&tlng=en |