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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. Among authors: glover g. Respir Med. 2022 Feb;192:106736. doi: 10.1016/j.rmed.2022.106736. Epub 2022 Jan 6. Respir Med. 2022. PMID: 35032736 Free article.
CFTR H609R mutation in Ecuadorian patients with cystic fibrosis.
Moya-Quiles MR, Glover G, Mondéjar-López P, Pastor-Vivero MD, Fernández-Sánchez A, Sánchez-Solís M. Moya-Quiles MR, et al. Among authors: glover g. J Cyst Fibros. 2009 Jul;8(4):280-1. doi: 10.1016/j.jcf.2009.05.001. Epub 2009 May 19. J Cyst Fibros. 2009. PMID: 19457724 Free article.
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. Among authors: glover g. 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.
Genotype-phenotype correlation in three homozygotes for the cystic fibrosis mutation 2183AA-->G shows a severe phenotype.
Kilinç MO, Ninis VN, Tolun A, Estivill X, Casals T, Savov A, Dagli E, Karakoç F, Demirkol M, Hüner G, Ozkinay F, Demir E, Seculi JL, Pena J, Bousono C, Ferrer-Calvete J, Calvo C, Glover G, Kremenski I. Kilinç MO, et al. Among authors: glover g. J Med Genet. 2000 Apr;37(4):307-9. doi: 10.1136/jmg.37.4.307. J Med Genet. 2000. PMID: 10819640 Free PMC article. No abstract available.
597 results