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

Autor: Esperón-Moldes, Uxia, Ginarte, Manuel, Rodríguez-Pazos, Laura, Fachal, Laura, Pozo, Tomás, Aguilar, Jesús Luelmo, del Boz González, Javier, Santiago, Ana Martín, Vega, Ana
Zdroj: In Journal of Dermatological Science September 2018 91(3):328-331
Databáze: ScienceDirect