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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Hum Mol Genet
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Oxford University Press 2016
Pynciau:
Articles
Mynediad Ar-lein: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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