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

Esperón-Moldes, UxiaGinarte, ManuelRodríguez-Pazos, LauraFachal, LauraPozo, TomásAguilar, Jesús LuelmoDel Boz González, JavierSantiago, Ana MartínVega, Ana2023-01-252023-01-252018-06-05http://hdl.handle.net/10668/12572enATP-Binding Cassette TransportersCodon, NonsenseDNA Mutational AnalysisFemaleFounder EffectGenetic Association StudiesGenetic Predisposition to DiseaseHaplotypesHeredityHumansIchthyosiform Erythroderma, CongenitalIchthyosis, LamellarMaleMutation, MissensePhenotypeSpainABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications.research article2988749010.1016/j.jdermsci.2018.05.0121873-569X