Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases

Significant number out of 2.2 billion vision impairments in the world can be attributed to genetics. The current study is aimed to decipher the genetic basis of Leber congenital Amaurosis (LCA), Anterior Segment dysgenesis (ASD), and Retinitis Pigmentosa (RP), segregating in four large consanguineou...

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Detalles Bibliográficos
Autores principales: Rashid, Muhammad, Qasim, Muhammad, Ishaq, Rafaqat, Bukhari, Shazia Anwer, Sajid, Zureesha, Ashfaq, Usman Ali, Haque, Asma, Ahmed, Zubair M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7518604/
https://www.ncbi.nlm.nih.gov/pubmed/32976546
http://dx.doi.org/10.1371/journal.pone.0239748

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7518604/
https://www.ncbi.nlm.nih.gov/pubmed/32976546
http://dx.doi.org/10.1371/journal.pone.0239748

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