Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Francisco Alvarado-Huerta"'
Autor:
Wilfredo De Jesús-Rojas, José Muñiz-Hernández, Francisco Alvarado-Huerta, Jesús M. Meléndez-Montañez, Arnaldo J. Santos-López, Ricardo A. Mosquera
Publikováno v:
Diagnostics, Vol 12, Iss 5, p 1127 (2022)
Primary ciliary dyskinesia (PCD) has been linked to more than 50 genes that cause a spectrum of clinical symptoms, including newborn respiratory distress, sinopulmonary infections, and laterality abnormalities. Although the RSPH4A (c.921+3_6delAAGT)
Externí odkaz:
https://doaj.org/article/63bf01deb0af4fa09c68d92bd8f5acfa
Autor:
Wilfredo De Jesús-Rojas, Francisco Alvarado-Huerta, Jesús Meléndez-Montañez, José Muñiz-Hernández, Arnaldo Santos-López, Ricardo Mosquera
Publikováno v:
Advances in Respiratory Medicine; Volume 90; Issue 5; Pages: 399-406
Primary Ciliary Dyskinesia (PCD) is a rare genetic disease characterized by motile cilia dysfunction with a prevalence of 1 in 16,309 individuals in Hispanic populations. In Puerto Rico, the prevalence of PCD is unknown. Diagnosis of PCD in Puerto Ri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed99604236d3e3389f55896bea986c2a
Autor:
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
Publikováno v:
International Journal of Molecular Sciences. 24:1936
The radial spoke head protein 4 homolog A (RSPH4A) gene is one of more than 50 genes that cause Primary ciliary dyskinesia (PCD), a rare genetic ciliopathy. Genetic mutations in the RSPH4A gene alter an important protein structure involved in ciliary
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::aa03c5cc862aa1f1e7163b2a140986e0
https://doi.org/10.3390/ijms24031936
https://doi.org/10.3390/ijms24031936