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Practical guide to genetic screening for inherited eye diseases

Genetic eye diseases affect around one in 1000 people worldwide for which the molecular aetiology remains unknown in the majority. The identification of disease-causing gene variant(s) allows a better understanding of the disorder and its inheritance. There is now an approved retinal gene therapy fo...

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Detalles Bibliográficos
Autores principales: Méjécase, Cécile, Malka, Samantha, Guan, Zeyu, Slater, Amy, Arno, Gavin, Moosajee, Mariya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7513416/
https://www.ncbi.nlm.nih.gov/pubmed/33015543
http://dx.doi.org/10.1177/2515841420954592