Case report: Biochemical and clinical phenotypes caused by cysteine substitutions in the epidermal growth factor-like domains of fibrillin-1

Marfan syndrome, an autosomal dominant disorder of connective tissue, is primarily caused by mutations in the fibrillin-1 (FBN1) gene, which encodes the protein fibrillin-1. The protein is composed of epidermal growth factor-like (EGF-like) domains, transforming growth factor beta-binding protein-li...

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Detalles Bibliográficos
Autores principales: Liu, Xin, Liu, Kaiqing, Nie, Danyao, Zhang, Jing, Zhang, Liyun, Liu, Xinhua, Wang, Jiantao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9402891/
https://www.ncbi.nlm.nih.gov/pubmed/36035136
http://dx.doi.org/10.3389/fgene.2022.928683

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9402891/
https://www.ncbi.nlm.nih.gov/pubmed/36035136
http://dx.doi.org/10.3389/fgene.2022.928683

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