Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis

Retinitis pigmentosa (RP) is a highly heterogeneous group of disorders characterized by degeneration of the retinal photoreceptor cells and progressive loss of vision. While hundreds of mutations in more than 100 genes have been reported to cause RP, discovering the causative mutations in many patie...

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Опубликовано в: :Hum Mol Genet
Главные авторы: DeLuca, Adam P., Whitmore, S. Scott, Barnes, Jenna, Sharma, Tasneem P., Westfall, Trudi A., Scott, C. Anthony, Weed, Matthew C., Wiley, Jill S., Wiley, Luke A., Johnston, Rebecca M., Schnieders, Michael J., Lentz, Steven R., Tucker, Budd A., Mullins, Robert F., Scheetz, Todd E., Stone, Edwin M., Slusarski, Diane C.
Формат: Artigo
Язык:Inglês
Опубликовано: Oxford University Press 2016
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Articles
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4690490/
https://ncbi.nlm.nih.gov/pubmed/26494905
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv446
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