Aberrant Splicing Events Associated to <i>CDH23</i> Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1

Aberrant Splicing Events Associated to <i>CDH23</i> Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1

Aims: The aim of this study was the genetic diagnosis by next generation sequencing (NGS) of a patient diagnosed with Usher syndrome type 2 and the functional evaluation of the identified genetic variants to establish a phenotype&#8722;genotype correlation. Methods: Whole exome sequencing (WES)...

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Bibliographic Details
Main Authors: Rebeca Valero, Marta de Castro-Miró, Sofía Jiménez-Ochoa, Juan José Rodríguez-Ezcurra, Gemma Marfany, Roser Gonzàlez-Duarte
Format: Article
Language:English
Published: MDPI AG 2019-09-01
Series:Genes
Subjects:
Usher syndrome
<i>CDH23</i>
splice site variants
functional analysis
phenotypic effects
Online Access:https://www.mdpi.com/2073-4425/10/10/732

Internet

https://www.mdpi.com/2073-4425/10/10/732

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