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Therapeutic approaches and development of genomic diagnostic tools for Usher syndrome

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Therapeutic approaches and development of genomic diagnostic tools for Usher syndrome

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Fuster García, C. (2020). Therapeutic approaches and development of genomic diagnostic tools for Usher syndrome [Tesis doctoral no publicada]. Universitat Politècnica de València. https://doi.org/10.4995/Thesis/10251/137034

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Title: Therapeutic approaches and development of genomic diagnostic tools for Usher syndrome
Author: Fuster García, Carla
Director(s): Aller Mañas, Elena Millán Salvador, José María
UPV Unit: Universitat Politècnica de València. Departamento de Biotecnología - Departament de Biotecnologia
Read date / Event date:
2020-01-14
Issued date:
Abstract:
[ES] El síndrome de Usher (USH) es un trastorno raro autosómico recesivo definido principalmente por sordera neurosensorial (SNHL), y una distrofia retiniana conocida como retinosis pigmentaria (RP). La patología muestra ...[+]


[CAT] La síndrome d'Usher (USH) és una malaltia rara autosòmic recessiu definit principalment per sordera neurosensorial (SNHL) i una distròfia retiniana coneguda com a retinosi pigmentària (RP). La patologia mostra ...[+]


[EN] Usher syndrome (USH) is a rare autosomal recessive disorder defined essentially by sensorineural hearing loss (SNHL) and a retinal dystrophy known as retinitis pigmentosa (RP). The condition shows a genetic ...[+]
Subjects: Retinosis pigmentaria , Distrofias retina , Sordera , CRISPR , Secuenciación masiva
Copyrigths: Reserva de todos los derechos
DOI: 10.4995/Thesis/10251/137034
Publisher:
Universitat Politècnica de València
Thanks:
This work was financially supported by the Institute of Health Carlos III and FEDER funds (ISCIII; grants PI13/00638, PI16/00425, PI16/00539, and PIE13/00046), Fundación ONCE (grant 2015/0398), XVIII Fundaluce-FARPE, and ...[+]
Type: Tesis doctoral

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