Whole exome sequencing unveils a frameshift mutation in CNGB3 for cone dystrophy: A case report of an Indian family

RATIONALE: Genetic elucidation of cone-dominated retinal dystrophies in Indian subcontinent is much needed to identify and catalog underlying genetic defects. In this context, the present study recruited a consanguineous Indian family affected with autosomal recessive cone dystrophy (CD). Considerin...

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Detalles Bibliográficos
Autores principales: Gupta, Shashank, Chaurasia, Amit, Pathak, Ekta, Mishra, Rajeev, Chaudhry, Vidya Nair, Chaudhry, Prashaant, Mukherjee, Ashim, Mutsuddi, Mousumi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2017
Materias:
3500
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5627817/
https://www.ncbi.nlm.nih.gov/pubmed/28746191
http://dx.doi.org/10.1097/MD.0000000000007490

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5627817/
https://www.ncbi.nlm.nih.gov/pubmed/28746191
http://dx.doi.org/10.1097/MD.0000000000007490

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