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High-throughput strategies for molecular diagnosis of nonsyndromic inherited retinal dystrophies

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High-throughput strategies for molecular diagnosis of nonsyndromic inherited retinal dystrophies

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Rodríguez Muñoz, A. (2020). High-throughput strategies for molecular diagnosis of nonsyndromic inherited retinal dystrophies [Tesis doctoral no publicada]. Universitat Politècnica de València. https://doi.org/10.4995/Thesis/10251/139095

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Title: High-throughput strategies for molecular diagnosis of nonsyndromic inherited retinal dystrophies
Author: Rodríguez Muñoz, Ana
Director(s): García García, Gema Millán Salvador, José María
UPV Unit: Universitat Politècnica de València. Departamento de Biotecnología - Departament de Biotecnologia
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2020-02-11
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Abstract:
[ES] Las distrofias hereditarias de la retina (DHR) son un conjunto de trastornos caracterizados por la muerte, generalmente, progresiva de fotorreceptores y células del epitelio pigmentario retiniano. Las DHR afectan a ...[+]


[CAT] Les distròfies hereditàries de la retina (DHR) són un conjunt de trastorns caracteritzats per la mort, generalment, progressiva de fotoreceptors i cèl¿lules de l'epiteli pigmentari retiniano. Les DHR afecten més de ...[+]


[EN] Inherited retinal dystrophies (IRD) are a group of disorders generally characterized by the progressive death of photoreceptors and retinal pigment epithelial cells. IRD affect more than 2 million people in the world, ...[+]
Subjects: Distrofia , Hereditaria , Retina , Next generation sequencing , Diagnóstico molecular
Copyrigths: Reserva de todos los derechos
DOI: 10.4995/Thesis/10251/139095
Type: Tesis doctoral

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