title: Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.
authors.affiliation: Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.
authors.forename: L
authors.initials: L
authors.lastname: Fachal
authors.forename: L
authors.initials: L
authors.lastname: Rodríguez-Pazos
authors.forename: M
authors.initials: M
authors.lastname: Ginarte
authors.forename: A
authors.initials: A
authors.lastname: Carracedo
authors.forename: J
authors.initials: J
authors.lastname: Toribio
authors.forename: A
authors.initials: A
authors.lastname: Vega
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000235:genetics*; D008049:Lipase / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D000217:Acyltransferases; D010740:Phospholipases
chemical_list: D008049:Lipase; C549684:PNPLA1 protein, human; D000217:Acyltransferases; D010740:Phospholipases