Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation-Reference-Cited by-同舟云学术

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

Published:2020-02-18 Issue:2 Volume:15 Page:e0229025
ISSN:1932-6203
Container-title:PLOS ONE
language:en
Short-container-title:PLoS ONE

Author:

Esperón-Moldes Uxia,Ginarte-Val Manuel^ORCID,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^ORCID

Funder

Ramón Areces Foundation project

Instituto de Salud Carlos III

Consellería de Economía, Emprego e Industria, Xunta de Galicia

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference46 articles.

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3. Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans;FPW Radner;PLoS Genet,2013

4. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans;A Grall;Nat Genet,2012

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