ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications

ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications

Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Dermatological Science - Volume 91, Issue 3, September 2018, Pages 328-331

Uxia Esperón-Moldes, Manuel Ginarte, Laura Rodríguez-Pazos, Laura Fachal, Tomás Pozo, Jesús Luelmo Aguilar, Javier del Boz González, Ana Martín Santiago, Ana Vega,