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Novel CYP4F22 mutations associated with autosomal recessive..:
Esperón Moldes, Uxía Saraiva
;
Ginarte Val, Manuel Javier
;
Rodríguez Pazos, Laura
...
1932-6203. , 2020
Link:
https://hdl.handle.net/20.500.11940/16769
RT Journal T1
Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation
UL https://suche.suub.uni-bremen.de/peid=base-ftgaliciaconsell:oai:runa.sergas.gal:20.500.11940_16769&Exemplar=1&LAN=DE A1 Esperón Moldes, Uxía Saraiva A1 Ginarte Val, Manuel Javier A1 Rodríguez Pazos, Laura A1 Fachal Vilar, Laura A1 Martín-Santiago, A A1 Vicente, A A1 Jiménez-Gallo, D A1 Guillén-Navarro, E A1 Sampol, L. M A1 González-Enseñat, M. A A1 Vega, A YR 2020 K1 Middle Aged K1 Humans K1 Ichthyosis K1 Haplotypes K1 Pedigree K1 Structure-Activity Relationship K1 Phenotype K1 Cytochrome P-450 Enzyme System K1 Amino Acid Substitution K1 Protein Conformation K1 Alleles K1 fenotipo K1 sistema enzimático del citocromo P-450 K1 mediana edad K1 humanos K1 relación estructura-actividad K1 linaje K1 haplotipos K1 alelos K1 conformación de proteínas K1 ictiosis K1 sustitución de aminoácidos K1 CHUS K1 CHUVI K1 IDIS JF 1932-6203 LK http://dx.doi.org/https://hdl.handle.net/20.500.11940/16769 DO https://hdl.handle.net/20.500.11940/16769 SF ELIB - SuUB Bremen
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