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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書誌詳細
出版年:Hum Mol Genet
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: Oxford University Press 2016
主題:
Articles
オンライン･アクセス: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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