TY  - JOUR
AU  - Esperón-Moldes, Uxia
AU  - Ginarte, Manuel
AU  - Rodríguez-Pazos, Laura
AU  - Fachal, Laura
AU  - Pozo, Tomás
AU  - Aguilar, Jesús Luelmo
AU  - Del Boz González, Javier
AU  - Santiago, Ana Martín
AU  - Vega, Ana
PY  - 2018
DO  - 10.1016/j.jdermsci.2018.05.012
UR  - http://hdl.handle.net/10668/12572
T2  - Journal of dermatological science
LA  - en
KW  - ATP-Binding Cassette Transporters
KW  - Codon, Nonsense
KW  - DNA Mutational Analysis
KW  - Female
KW  - Founder Effect
KW  - Genetic Association Studies
KW  - Genetic Predisposition to Disease
KW  - Haplotypes
KW  - Heredity
KW  - Humans
KW  - Ichthyosiform Erythroderma, Congenital
KW  - Ichthyosis, Lamellar
KW  - Male
KW  - Mutation, Missense
KW  - Phenotype
KW  - Spain
TI  - ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications.
TY  - research article
VL  - 91
ER  -