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FBN1 Splice-Altering Mutations in Marfan Syndrome: A Case Report and Literature Review

Marfan syndrome (MFS) is a life-threatening autosomal dominant genetic disorder of connective tissue caused by the pathogenic mutation of FBN1. Whole exome sequencing and Sanger sequencing were performed to identify the pathogenic mutation. The transcriptional consequence of the splice-altering muta...

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Detalles Bibliográficos
Autores principales:	Wang, James Jiqi, Yu, Bo, Sun, Yang, Song, Xiuli, Wang, Dao Wen, Li, Zongzhe
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9602130/ https://www.ncbi.nlm.nih.gov/pubmed/36292727 http://dx.doi.org/10.3390/genes13101842

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