Identification of gross deletions in FBN1 gene by MLPA

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 small propor...

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Bibliografske podrobnosti
izdano v:Hum Genomics
Main Authors: Yang, Hang, Ma, Yanyun, Luo, Mingyao, Zhao, Kun, Zhang, Yinhui, Zhu, Guoyan, Sun, Xiaogang, Luo, Fanyan, Wang, Lin, Shu, Chang, Zhou, Zhou
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2018
Teme:
Primary Research
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6172713/
https://ncbi.nlm.nih.gov/pubmed/30286810
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40246-018-0178-y
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