Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma

To delineate the genetic bases of primary congenital glaucoma (PCG), we ascertained a large cohort consisting of 48 consanguineous families. Of these, we previously reported 26 families with mutations in CYP1B1 and six families with LTBP2, whereas the genetic bases responsible for PCG in 16 families...

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Detalles Bibliográficos
Autores principales: Rauf, Bushra, Khan, Shahid Y., Jiao, Xiaodong, Irum, Bushra, Ashfaq, Ramla, Zehra, Mubashra, Khan, Asma A., Naeem, Muhammad Asif, Shahzad, Mohsin, Riazuddin, Sheikh, Hejtmancik, J. Fielding, Riazuddin, S. Amer
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9568502/
https://www.ncbi.nlm.nih.gov/pubmed/36241656
http://dx.doi.org/10.1038/s41598-022-20939-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9568502/
https://www.ncbi.nlm.nih.gov/pubmed/36241656
http://dx.doi.org/10.1038/s41598-022-20939-5

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