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CFTR mutations in cystic fibrosis patients from Murcia region (southeastern Spain): implications for genetic testing.
Moya-Quiles MR, Mondéjar-López P, Pastor-Vivero MD, González-Gallego I, Juan-Fita MJ, Egea-Mellado JM, Carbonell P, Casals T, Fernández-Sánchez A, Sánchez-Solís M, Glover G. Moya-Quiles MR, et al. Clin Genet. 2009 Dec;76(6):577-9. doi: 10.1111/j.1399-0004.2009.01252.x. Epub 2009 Oct 21. Clin Genet. 2009. PMID: 19845690 No abstract available.
Geographic distribution and phenotype of European people with cystic fibrosis carrying A1006E mutation.
Mondejar-Lopez P, Zolin A, Garcia-Marcos PW, Pastor-Vivero MD, Rosa-Silvestre M, de Asis Sanchez-Martinez F, Salvatore D, Cimino G, Majo F, Sole-Jover A, Asensio de la Cruz O, Calderazzo MA, Pizzamiglio G, Castillo-Corullon S, Alvarez-Fernandez A, Gartner S, Padoan R, Carnovale V, Salvatore M, Moya-Quiles MR, Orenti A, Glover G, Sanchez-Solis M. Mondejar-Lopez P, et al. Respir Med. 2022 Feb;192:106736. doi: 10.1016/j.rmed.2022.106736. Epub 2022 Jan 6. Respir Med. 2022. PMID: 35032736 Free article.
Genotypic Frequencies of Mutations Associated with Alpha-1 Antitrypsin Deficiency in Unrelated Bone Marrow Donors from the Murcia Region Donor Registry in the Southeast of Spain.
Cuenca I, Botella C, Moya-Quiles MR, Jimenez-Coll V, Galian JA, Martinez-Banaclocha H, Muro-Pérez M, Minguela A, Legaz I, Muro M. Cuenca I, et al. Among authors: moya quiles mr. Diagnostics (Basel). 2023 Sep 2;13(17):2845. doi: 10.3390/diagnostics13172845. Diagnostics (Basel). 2023. PMID: 37685383 Free PMC article.
99 results