Article

Identification of two novel large deletions in FBN1 gene by next-generation sequencing and multiplex ligation-dependent probe amplification

2023-06-26

Abstract excerpt

<h4>Background: </h4> Mutations in fibrillin 1 ( FBN1 ) are known to be associated with Marfan syndrome (MFS), an autosomal dominant connective tissue disorder. Most FBN1 mutations are missense or nonsense mutations. Conventional molecular genetic testing of FBN1 using techniques such as Sanger sequencing may miss disease-causing mutations in promoter regions or other noncoding sequences as well as partial or comp...

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Literature Corpus work: 7d09f232-90cc-5d57-b883-e76b6af2977e
DOI: 10.21203/rs.3.rs-3059259/v1

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