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Analysis of the most frequent mutations associated with primary ciliary dyskinesia in Spanish patients applying next generation sequencing methods

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Analysis of the most frequent mutations associated with primary ciliary dyskinesia in Spanish patients applying next generation sequencing methods

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Koistra, N. (2021). Analysis of the most frequent mutations associated with primary ciliary dyskinesia in Spanish patients applying next generation sequencing methods. Universitat Politècnica de València. http://hdl.handle.net/10251/174013

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Title: Analysis of the most frequent mutations associated with primary ciliary dyskinesia in Spanish patients applying next generation sequencing methods
Author: Koistra, Nataliia
Director(s): Sirera Pérez, Rafael Castillo Corullon, Silvia
UPV Unit: Universitat Politècnica de València. Departamento de Biotecnología - Departament de Biotecnologia
Read date / Event date:
2021-09-16
Issued date:
Abstract:
[ES] Discinesia Ciliar Primaria (DCP) es un trastorno hereditario de carácter autosómico recesivo que se caracteriza por la inmovilidad ciliar. El diagnóstico de la enfermedad es complicado debido a la similitud de síntomas ...[+]


[EN] Primary Ciliary Dyskinesia (PCD) is an inherited autosomal recessive disorder characterized by ciliary immobility. The diagnosis of the disease is complicated due to the similarity of symptoms to those of other ...[+]
Subjects: Discinesia ciliar primaria , Secuenciación masiva , Panel de genes , Microscopía electrónica , Batido ciliar , Cilia , Primary ciliary dyskinesia , Next generation sequencing , Gene panel , Electron microscopy , Mucociliary clearance
Copyrigths: Cerrado
Publisher:
Universitat Politècnica de València
degree: Máster Universitario en Biotecnología Biomédica-Màster Universitari en Biotecnologia Biomèdica
Type: Tesis de máster

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