Publicacións nas que colabora con Laura Fachal Vilar (4)
2014
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Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis
British Journal of Dermatology
2012
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Characterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosis
International Journal of Dermatology, Vol. 51, Núm. 4, pp. 427-430
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Multiple local and recent founder effects of TGM1 in Spanish families.
PloS one, Vol. 7, Núm. 4
2011
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Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): Evidence of founder effects
British Journal of Dermatology, Vol. 165, Núm. 4, pp. 906-911