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Smoking but not homozygosity for CYP1A2 g-163A allelic variant leads to earlier disease onset in patients with sporadic porphyria cutanea tarda.
Fontanellas A, Martínez-Fresno M, Garrido-Astray MC, Perucho T, Morán-Jiménez MJ, García-Bravo M, Méndez M, Poblete-Gutiérrez P, Frank J, Henriques-Gil N, de Salamanca RE. Fontanellas A, et al. Exp Dermatol. 2010 Aug;19(8):e326-8. doi: 10.1111/j.1600-0625.2009.01040.x. Exp Dermatol. 2010. PMID: 20163457 Free article.
A novel mutation in the SLC40A1 gene associated with reduced iron export in vitro.
Moreno-Carralero MI, Muñoz-Muñoz JA, Cuadrado-Grande N, López-Rodríguez R, José Hernández-Alfaro M, del-Castillo-Rueda A, Enríquez-de-Salamanca R, Méndez M, Morán-Jiménez MJ. Moreno-Carralero MI, et al. Am J Hematol. 2014 Jul;89(7):689-94. doi: 10.1002/ajh.23714. Epub 2014 Apr 10. Am J Hematol. 2014. PMID: 24644245 Free article.
The hereditary hyperferritinemia-cataract syndrome: a family study.
Álvarez-Coca-González J, Moreno-Carralero MI, Martínez-Pérez J, Méndez M, García-Ros M, Morán-Jiménez MJ. Álvarez-Coca-González J, et al. Eur J Pediatr. 2010 Dec;169(12):1553-5. doi: 10.1007/s00431-010-1251-2. Epub 2010 Jul 9. Eur J Pediatr. 2010. PMID: 20617342
43 results