First heterozygous<i>NOP10</i>mutation in familial pulmonary fibrosis
Caroline Kannengiesser, Effrosyni D. Manali, Patrick Revy, Isabelle Callebaut, Ibrahima Ba, Adrien Borgel, Claire Oudin, Aggeliki Haritou, Lykourgos Kolilekas, Katerina Malagari, Raphaël Borie, Élodie Lainey, Cathérine Boileau, Bruno Crestani, Spyros A. Papiris
Abstract
<b>We provide first evidence that a heterozygous <i>NOP10</i> mutation (c.17A>G,p.Tyr6Cys) identified in a large family co-segregates with adult-onset familial PF and predisposes to short telomere syndrome (familial PF, liver, haematological diseases)</b>http://bit.ly/2wvXsUd
Topics & Concepts
MedicineMutationTelomereHeterozygote advantageGeneticsGenotypeDNAGeneBiologyInterstitial Lung Diseases and Idiopathic Pulmonary FibrosisMedical Imaging and Pathology StudiesRNA modifications and cancer