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PROM1 gene variations in Brazilian patients with macular dystrophy.
Salles MV, Motta FL, Dias da Silva E, Varela Lima Teixeira P, Antunes Costa K, Filippelli-Silva R, Martin R, Pesquero JB, Ferraz Sallum JM. Salles MV, et al. Ophthalmic Genet. 2017 Jan-Feb;38(1):39-42. doi: 10.1080/13816810.2016.1275022. Epub 2017 Jan 17. Ophthalmic Genet. 2017. PMID: 28095140
Relative frequency of inherited retinal dystrophies in Brazil.
Motta FL, Martin RP, Filippelli-Silva R, Salles MV, Sallum JMF. Motta FL, et al. Among authors: martin rp. Sci Rep. 2018 Oct 29;8(1):15939. doi: 10.1038/s41598-018-34380-0. Sci Rep. 2018. PMID: 30374144 Free PMC article.
Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.
Varela P, Mastroianni Kirsztajn G, Motta FL, Martin RP, Turaça LT, Ferrer HLF, Gomes CP, Nicolicht P, Mara Marins M, Pessoa JG, Braga MC, D'Almeida V, Martins AM, Pesquero JB. Varela P, et al. Among authors: martin rp. Orphanet J Rare Dis. 2020 Jan 29;15(1):30. doi: 10.1186/s13023-019-1274-3. Orphanet J Rare Dis. 2020. PMID: 31996269 Free PMC article.
341 results