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

MeSH terms

• ATP-Binding Cassette Transporters / genetics*
• Codon, Nonsense*
• DNA Mutational Analysis
• Female
• Founder Effect*
• Genetic Association Studies
• Genetic Predisposition to Disease
• Haplotypes
• Heredity
• Humans
• Ichthyosiform Erythroderma, Congenital / diagnosis
• Ichthyosiform Erythroderma, Congenital / epidemiology
• Ichthyosiform Erythroderma, Congenital / genetics*
• Ichthyosis, Lamellar / diagnosis
• Ichthyosis, Lamellar / epidemiology
• Ichthyosis, Lamellar / genetics*
• Male
• Mutation, Missense*
• Phenotype
• Spain / epidemiology