摘要
Objective causing mutation in a Marfan syndrome(MFS)family with a proband,and to establish genotype-phenotype correlations.Methods Genomic DNA from peripheral blood leukocytes of a Chinese Marfan syndrome familial were isolated and screened for fibrillin-1(FBN1)mutations by direct sequencing,and a genotypephenotype study was carried out following a review of the literature on mutations in the searched area.
出处
《中国循环杂志》
CSCD
北大核心
2018年第S01期125-125,共1页
Chinese Circulation Journal
