Mutation screening in the FBN1 gene responsible for Marfan syndrome and related disorder in Chinese families.

Bo GongLan YangQingwei WangZimeng YeXiaoxin GuoChen YangFang HaoYi ShiYi HuangChao QuZhenglin Yang

Published in: Molecular genetics & genomic medicine (2019)

Eight FBN1 mutations were identified in Chinese families with MFS and related disorder. These data expands FBN1 mutation spectrum and further emphasizes the role of FBN1 in the pathogenesis of MFS.

Keyphrases

genome wide
copy number
case report
big data
machine learning
dna methylation
transcription factor
artificial intelligence
deep learning