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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Rashid, Muhammad, Qasim, Muhammad, Ishaq, Rafaqat, Bukhari, Shazia Anwer, Sajid, Zureesha, Ashfaq, Usman Ali, Haque, Asma, Ahmed, Zubair M.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2020
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7518604/
https://ncbi.nlm.nih.gov/pubmed/32976546
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0239748
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados