Identification of gross deletions in FBN1 gene by MLPA.

Hang YangYanyun MaMingyao LuoKun ZhaoYinhui ZhangGuoyan ZhuXiaogang SunFanyan LuoLin WangChang ShuZhou Zhou

Published in: Human genomics (2018)

Our finding expands the mutation spectrum of large FBN1 deletions and emphasizes the importance of screening for large FBN1 deletions in clinical genetic testing, especially for those with classic Marfan phenotype.

Keyphrases

genome wide
copy number
dna methylation
gene expression
bioinformatics analysis