A novel FLCN mutation in family members diagnosed with primary spontaneous pneumothorax

ConclusionWe found that a heterozygous mutation in exon 11 ofFLCN c. 1273C>T (p.Gln425Ter), which was identified for the first time in our study, might cause isolated familial spontaneous pneumothorax.

Source: Molecular Genetics & Genomic Medicine - October 17, 2019 Category: Genetics & Stem Cells Authors: Burcu Genc Yavuz, Esra Guzel Tanoglu, Seda Salman Y ılmaz, Sahin Colak Tags: ORIGINAL ARTICLE Source Type: research