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Article

First heterozygousNOP10mutation in familial pulmonary fibrosis

5 Mar 2020

Abstract excerpt

We provide first evidence that a heterozygous NOP10 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)http://bit.ly/2wvXsUd

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Share to Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
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PMID: 32139460
DOI: 10.1183/13993003.02465-2019

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