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Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.
Millá E, Mañé B, Duch S, Hernan I, Borràs E, Planas E, Dias Mde S, Carballo M, Gamundi MJ; Spanish Multicenter Glaucoma Group-Estudio Multicéntrico Español de Investigación Genética del Glaucoma, EMEIGG. Millá E, et al. Among authors: carballo m. Mol Vis. 2013 Aug 4;19:1707-22. Print 2013. Mol Vis. 2013. PMID: 23922489 Free PMC article.
Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.
Martínez-Gimeno M, Gamundi MJ, Hernan I, Maseras M, Millá E, Ayuso C, García-Sandoval B, Beneyto M, Vilela C, Baiget M, Antiñolo G, Carballo M. Martínez-Gimeno M, et al. Among authors: carballo m. Invest Ophthalmol Vis Sci. 2003 May;44(5):2171-7. doi: 10.1167/iovs.02-0871. Invest Ophthalmol Vis Sci. 2003. PMID: 12714658
345 results