Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy

Inherited retinal dystrophies present extensive phenotypic and genetic heterogeneity, posing a challenge for patients’ molecular and clinical diagnoses. In this study, we wanted to clinically characterize and investigate the molecular etiology of an atypical form of autosomal recessive retinal dystr...

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Detalles Bibliográficos
Autores principales: Nikopoulos, Konstantinos, Avila-Fernandez, Almudena, Corton, Marta, Lopez-Molina, Maria Isabel, Perez-Carro, Raquel, Bontadelli, Lara, Di Gioia, Silvio Alessandro, Zurita, Olga, Garcia-Sandoval, Blanca, Rivolta, Carlo, Ayuso, Carmen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4642573/
https://www.ncbi.nlm.nih.gov/pubmed/26350383
http://dx.doi.org/10.1038/srep13902

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4642573/
https://www.ncbi.nlm.nih.gov/pubmed/26350383
http://dx.doi.org/10.1038/srep13902

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