Identification and functional characterization of a novel surfactant protein A2 mutation (p.N207Y) in a Chinese family with idiopathic pulmonary fibrosis

ConclusionWe are confident that this novel mutation (NM_001098668.4: c.619A>T; NP_001092138.1: p.N207Y) inSFTPA2 is the genetic mutation of the IPF family. Our study not only confirms the importance of SFTPA2 in IPF but also expands the spectrum ofSFTPA2 mutations and contributes to the genetic diagnosis and counseling of IPF patients.

Source: Molecular Genetics & Genomic Medicine - June 29, 2020 Category: Genetics & Stem Cells Authors: Lv Liu, Jieli Qin, Ting Guo, Ping Chen, Ruoyun Ouyang, Hong Peng, Hong Luo Tags: ORIGINAL ARTICLE Source Type: research