Publication: ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications.
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2018-06-05
Authors
Esperón-Moldes, Uxia
Ginarte, Manuel
Rodríguez-Pazos, Laura
Fachal, Laura
Pozo, Tomás
Aguilar, Jesús Luelmo
Del Boz González, Javier
Santiago, Ana Martín
Vega, Ana
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MeSH Terms
ATP-Binding Cassette Transporters
Codon, Nonsense
DNA Mutational Analysis
Female
Founder Effect
Genetic Association Studies
Genetic Predisposition to Disease
Haplotypes
Heredity
Humans
Ichthyosiform Erythroderma, Congenital
Ichthyosis, Lamellar
Male
Mutation, Missense
Phenotype
Spain
Codon, Nonsense
DNA Mutational Analysis
Female
Founder Effect
Genetic Association Studies
Genetic Predisposition to Disease
Haplotypes
Heredity
Humans
Ichthyosiform Erythroderma, Congenital
Ichthyosis, Lamellar
Male
Mutation, Missense
Phenotype
Spain