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

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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Bibliographic Details
Main Authors: Xin Liu, Kaiqing Liu, Danyao Nie, Jing Zhang, Liyun Zhang, Xinhua Liu, Jiantao Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-08-01
Series:Frontiers in Genetics
Subjects:
Marfan syndrome
FBN1
mutation
EGF-like domain
cysteine
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.928683/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.928683/full

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