Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect

Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect

Autosomal recessive congenital ichthyosis (ARCI) is a group of rare non-syndrome diseases that affect cornification. PNPLA1 is one of the 12 related genes identified so far. Mutation screening of this gene has resulted in the identification of 13 individuals, from 10 families, who carried 7 differen...

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Bibliographic Details
Main Authors: Uxia Esperón-Moldes, Manuel Ginarte Val, Laura Rodríguez-Pazos, Laura Fachal, José Manuel Azaña, María Barberá Fons, Mónica Viejo Diaz, Ana Vega
Format: Article
Language:English
Published: Society for Publication of Acta Dermato-Venereologica 2019-06-01
Series:Acta Dermato-Venereologica
Subjects:
ARCI
Spanish population
PNPLA1
founder effects
c.417_418delinsTC
Online Access: https://www.medicaljournals.se/acta/content/html/10.2340/00015555-3227

Internet

https://www.medicaljournals.se/acta/content/html/10.2340/00015555-3227

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