Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4

Variants in more than 271 different genes have been linked to hereditary retinal diseases, making comprehensive genomic approaches mandatory for accurate diagnosis. We explored the genetic landscape of retinal disorders in consanguineous families from North-Western Pakistan, harboring a population o...

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Detalles Bibliográficos
Autores principales: Ur Rehman, Atta, Peter, Virginie G., Quinodoz, Mathieu, Rashid, Abdur, Khan, Syed Akhtar, Superti-Furga, Andrea, Rivolta, Carlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7017091/
https://www.ncbi.nlm.nih.gov/pubmed/31877759
http://dx.doi.org/10.3390/genes11010012

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7017091/
https://www.ncbi.nlm.nih.gov/pubmed/31877759
http://dx.doi.org/10.3390/genes11010012

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