TY  - GEN 
AU  - Esperón Moldes, Uxía Saraiva
AU  - Ginarte  Val, Manuel Javier
AU  - Rodriguez-Pazos, L
AU  - Fachal Vilar, Laura
AU  - Martin-Santiago, A
AU  - Vicente, A
AU  - Jimenez-Gallo, D
AU  - Guillen-Navarro, E
AU  - Sampol, LM
AU  - Gonzalez-Ensenat, MA
AU  - Vega Gliemmo, Ana
PY  - 2020
SN  - 1932-6203
UR  - http://hdl.handle.net/20.500.11940/16843
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...
KW  - Middle Aged
KW  - Humans
KW  - Ichthyosis
KW  - Haplotypes
KW  - Pedigree
KW  - Structure-Activity Relationship
KW  - Phenotype
KW  - Cytochrome P-450 Enzyme System
KW  - Amino Acid Substitution
KW  - Protein Conformation
KW  - Alleles
TI  - Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation
DO  - 10.1371/journal.pone.0229025
KW  - FPGMX
KW  - CHUS
VL  - 15
ER  -