<b>Case report: </b><b>A </b><b><i>FBN1</i></b><b> Frameshift-and-Nonsense Mutation and Aortic Dissection in Marfan Syndrome</b>

A novel nonsense mutation (c.4991dupA; p.Tyr1664*) was identified in <i>FBN1</i>, contrasting with the wild-type sequence.

Publication Details

Journal
Figshare
Published
2025-01-01
DOI
https://doi.org/10.6084/m9.figshare.28741658.v1
Primary Topic
Connective tissue disorders research
Type
article
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article

Case report: A FBN1 Frameshift-and-Nonsense Mutation and Aortic Dissection in Marfan Syndrome

Figshare
Connective tissue disorders research
article

Case report: A FBN1 Frameshift-and-Nonsense Mutation and Aortic Dissection in Marfan Syndrome

article en

Abstract

A novel nonsense mutation (c.4991dupA; p.Tyr1664*) was identified in <i>FBN1</i>, contrasting with the wild-type sequence.

Figshare
Zero hunger
Openalex Percentile: Top 55%
Connective tissue disorders research
DOISourceOpenAlex
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<b>Case report: </b><b>A </b><b><i>FBN1</i></b><b> Frameshift-and-Nonsense Mutation and Aortic Dissection in Marfan Syndrome</b> · Figshare (2025) | TGRS Research Map | TGRS