title: Mutations in TGM1 in Ecuadorians with autosomal recessive congenital ichthyosis.
authors.affiliation: National Secretary of Sience and Technology (SENESCYT) National Institute for Research in Public Health (INSPI), Guayaquil, Guayas, Ecuador.
authors.forename: Hector
authors.initials: H
authors.lastname: Zambrano
authors.forename: Martha
authors.initials: M
authors.lastname: Montalvan
authors.forename: Jimmy
authors.initials: J
authors.lastname: Cabezas
authors.forename: Yin
authors.initials: Y
authors.lastname: Lu
authors.forename: Catherine S
authors.initials: CS
authors.lastname: Yang
authors.forename: Leonard M
authors.initials: LM
authors.lastname: Milstone
authors.forename: Keith
authors.initials: K
authors.lastname: Choate
mesh_terms: D004252:DNA Mutational Analysis; D004484:Ecuador; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D009154:Mutation; D011503:Transglutaminases / Q000235:genetics*
chemical_list: D011503:Transglutaminases; C105804:transglutaminase 1