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Identifícate
Portal da
INVESTIGACIÓN
Grupos
Investigadores/as
Resultados
Laura
Fachal Vilar
Hospital Universitario Son Espases
Palma, España
Estás en
Colaboracións
Hospital Universitario Son Espases
Publicacións en colaboración con investigadores/as de Hospital Universitario Son Espases (2)
2020
Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation
PLoS ONE, Vol. 15, Núm. 2
2018
ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications
Journal of Dermatological Science