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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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Dettagli Bibliografici
Pubblicato in:Genes (Basel)
Autori principali: Ur Rehman, Atta, Peter, Virginie G., Quinodoz, Mathieu, Rashid, Abdur, Khan, Syed Akhtar, Superti-Furga, Andrea, Rivolta, Carlo
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI 2019
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7017091/
https://ncbi.nlm.nih.gov/pubmed/31877759
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11010012
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