Open AccessA novel FBN1 gene mutation associated with earlyonset pneumothorax in Marfan syndrome
Author(s) -
Min Ji Park,
Dong Hun Lee,
Young Lim Shin,
Yong Hee Hong
Publication year - 2016
Publication title -
journal of genetic medicine
Language(s) - English
Resource type - Journals
eISSN - 2233-9108
pISSN - 1226-1769
DOI - 10.5734/jgm.2016.13.1.41
Subject(s) - medicine , missense mutation , arachnodactyly , marfan syndrome , frameshift mutation , exon , pediatrics , genetics , pathology , mutation , gene , biology
Marfan syndrome (MFS) is an inherited connective tissue disorder with a mutation in the fibrillin-1 (FBN1) gene. Fibrillin is a major building block...
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