A novel mutation in nuclear prelamin a recognition factor-like causes diffuse pulmonary arteriovenous malformations
Sign Up to like & getrecommendations! Published in 2017 at "Oncotarget"
DOI: 10.18632/oncotarget.13156
Abstract: Two daughters in a Chinese consanguineous family were diagnosed as diffuse pulmonary arteriovenous malformations (PAVMs) and screened using whole exome sequencing (WES) and copy number variations (CNVs) chips. Though no mutation was found in the… read more here.
Keywords: mutation nuclear; diffuse pulmonary; arteriovenous malformations; factor ... See more keywords