Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa

To delineate the genetic determinants associated with retinitis pigmentosa (RP), a hereditary retinal disorder, we recruited four large families manifesting cardinal symptoms of RP. We localized these families to regions on the human genome harboring the α and β subunits of phosphodiesterase 6 and i...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v:Hum Genome Var
Main Authors: Ullah, Inayat, Kabir, Firoz, Gottsch, Clare Brooks S, Naeem, Muhammad Asif, Guru, Aditya A, Ayyagari, Radha, Khan, Shaheen N, Riazuddin, Sheikh, Akram, Javed, Riazuddin, S Amer
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2016
Teme:
Data Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5112436/
https://ncbi.nlm.nih.gov/pubmed/27917291
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2016.36
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki