Identification of gross deletions in FBN1 gene by MLPA

Identification of gross deletions in FBN1 gene by MLPA

Abstract Background Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene. Approximately 90% of classic MFS patients have a FBN1 mutation that can be identified by single-gene sequencing or gene-panel sequencing targeting FBN1. However, a smal...

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Bibliographic Details
Main Authors: Hang Yang, Yanyun Ma, Mingyao Luo, Kun Zhao, Yinhui Zhang, Guoyan Zhu, Xiaogang Sun, Fanyan Luo, Lin Wang, Chang Shu, Zhou Zhou
Format: Article
Language:English
Published: BMC 2018-10-01
Series:Human Genomics
Subjects:
Marfan syndrome
MLPA
FBN1 gene
Deletion
Online Access:http://link.springer.com/article/10.1186/s40246-018-0178-y

Internet

http://link.springer.com/article/10.1186/s40246-018-0178-y

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