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...

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書目詳細資料
發表在: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
格式: Artigo
語言:Inglês
出版: Nature Publishing Group 2016
主題:
Data Report
在線閱讀: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
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