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

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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Bibliographic Details
Main Authors: Uxia Esperón-Moldes, Manuel Ginarte-Val, Laura Rodríguez-Pazos, Laura Fachal, Ana Martín-Santiago, Asunción Vicente, David Jiménez-Gallo, Encarna Guillén-Navarro, Loreto Martorell Sampol, María Antonia González-Enseñat, Ana Vega
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2020-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0229025

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https://doi.org/10.1371/journal.pone.0229025

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