The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes
Abstract Inherited retinal dystrophies are characterized by progressive retina degeneration and mutations in at least 250 genes have been associated as disease-causing. CRB1 is one of many genes analyzed in molecular diagnosis for inherited retinal dystrophy. Crumbs homolog-1 protein encoded by CRB1...
Enregistré dans:
Auteurs principaux: | Fabiana Louise Motta, Mariana Vallim Salles, Karita Antunes Costa, Rafael Filippelli-Silva, Renan Paulo Martin, Juliana Maria Ferraz Sallum |
---|---|
Format: | article |
Langue: | EN |
Publié: |
Nature Portfolio
2017
|
Sujets: | |
Accès en ligne: | https://doaj.org/article/48f921f6bd6e4d558b8221a9c9f34ce4 |
Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|
Documents similaires
-
Relative frequency of inherited retinal dystrophies in Brazil
par: Fabiana Louise Motta, et autres
Publié: (2018) -
Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.
par: Marta de Castro-Miró, et autres
Publié: (2014) -
Descriptive Study of a Cohort of 488 Patients with Inherited Retinal Dystrophies
par: Coco-Martin RM, et autres
Publié: (2021) -
Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies
par: Ionut-Florin Iancu, et autres
Publié: (2021) -
The phenotypic variability of HK1-associated retinal dystrophy
par: Zhisheng Yuan, et autres
Publié: (2017)