Loading...

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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Genes (Basel)
Main Authors: Ur Rehman, Atta, Peter, Virginie G., Quinodoz, Mathieu, Rashid, Abdur, Khan, Syed Akhtar, Superti-Furga, Andrea, Rivolta, Carlo
Format: Artigo
Sprog:Inglês
Udgivet: MDPI 2019
Fag:
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!