Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation

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 individuals) we performed a mutational analysis us...

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Detalles Bibliográficos
Autores principales: Esperón-Moldes, Uxia, Ginarte-Val, Manuel, Rodríguez-Pazos, Laura, Fachal, Laura, Martín-Santiago, Ana, Vicente, Asunción, Jiménez-Gallo, David, Guillén-Navarro, Encarna, Sampol, Loreto Martorell, González-Enseñat, María Antonia, Vega, Ana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7028276/
https://www.ncbi.nlm.nih.gov/pubmed/32069299
http://dx.doi.org/10.1371/journal.pone.0229025

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