GeneticsMolecular Genetics & Genomic MedicinePeer-reviewed
Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1
Mao Lin, Zhenlei Liu, Gang Liu…·Nan Wu
The paper investigates how different FBN1 truncating mutations cause distinct clinical phenotypes in Marfan syndrome and Marfanoid-progeroid-lipodystrophy syndrome through molecular and genetic analysis.
28 citations