TY  - JOUR
AU  - Esperón-Moldes, Uxia
AU  - Ginarte-Val, Manuel
AU  - Rodríguez-Pazos, Laura
AU  - Fachal, Laura
AU  - Martín-Santiago, Ana
AU  - Vicente, Asunción
AU  - Jiménez-Gallo, David
AU  - Guillén-Navarro, Encarna
AU  - Sampol, Loreto Martorell
AU  - González-Enseñat, María Antonia
AU  - Vega, Ana
PY  - 2020
DO  - 10.1371/journal.pone.0229025
UR  - http://hdl.handle.net/10668/15120
T2  - PloS one
AB  - Mutations in CYP4F22 cause autosomal recessive congenital ichthyosis (ARCI). However, less than 10% of all ARCI patients carry a mutation in CYP4F22. In order to identify the molecular basis of ARCI among our patients (a cohort of ninety-two Spanish...
LA  - en
KW  - Alleles
KW  - Amino Acid Substitution
KW  - Child
KW  - Child, Preschool
KW  - Cytochrome P-450 Enzyme System
KW  - Female
KW  - Founder Effect
KW  - Genes, Recessive
KW  - Haplotypes
KW  - Humans
KW  - Ichthyosis, Lamellar
KW  - Male
KW  - Middle Aged
KW  - Models, Molecular
KW  - Mutation
KW  - Pedigree
KW  - Phenotype
KW  - Protein Conformation
KW  - Spain
KW  - Structure-Activity Relationship
TI  - Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation.
TY  - research article
VL  - 15
ER  -