The <i>RSPH4A</i> Gene in Primary Ciliary Dyskinesia

The <i>RSPH4A</i> Gene in Primary Ciliary Dyskinesia

The radial spoke head protein 4 homolog A (<i>RSPH4A</i>) gene is one of more than 50 genes that cause Primary ciliary dyskinesia (PCD), a rare genetic ciliopathy. Genetic mutations in the <i>RSPH4A</i> gene alter an important protein structure involved in ciliary pathogenesi...

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Bibliographic Details
Main Authors: Wilfredo De Jesús-Rojas, Jesús Meléndez-Montañez, José Muñiz-Hernández, André Marra-Nazario, Francisco Alvarado-Huerta, Arnaldo Santos-López, Marcos J. Ramos-Benitez, Ricardo A. Mosquera
Format: Article
Language:English
Published: MDPI AG 2023-01-01
Series:International Journal of Molecular Sciences
Subjects:
<i>RSPH4A</i>
primary ciliary dyskinesia
cilia
genotype-phenotype relationships
transmission electron microscopy
nasal nitric oxide
Online Access:https://www.mdpi.com/1422-0067/24/3/1936

Internet

https://www.mdpi.com/1422-0067/24/3/1936

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