- Tytuł:
- Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation.
- Autorzy:
- Źródło:
- PloS one [PLoS One] 2020 Feb 18; Vol. 15 (2), pp. e0229025. Date of Electronic Publication: 2020 Feb 18 (Print Publication: 2020).
- Typ publikacji:
- Journal Article; Research Support, Non-U.S. Gov't
- MeSH Terms:
-
Founder Effect*
Genes, Recessive*
Mutation*
Cytochrome P-450 Enzyme System/*genetics
Ichthyosis, Lamellar/*genetics
Alleles ; Amino Acid Substitution ; Child ; Child, Preschool ; Cytochrome P-450 Enzyme System/chemistry ; Female ; Haplotypes ; Humans ; Male ; Middle Aged ; Models, Molecular ; Pedigree ; Phenotype ; Protein Conformation ; Spain ; Structure-Activity Relationship
Czasopismo naukowe