Identification of two novel COL3A1 variants in patients with vascular Ehlers‐Danlos syndrome

Identification of two novel COL3A1 variants in patients with vascular Ehlers‐Danlos syndrome

Abstract Background Vascular Ehlers‐Danlos syndrome (vEDS) is an autosomal dominant disease caused by aberrations in COL3A1, which encodes type III collagen. Sanger sequencing has limitations for diagnosis since exon deletion/duplication and splicing alterations are not uncommon in COL3A1. We report...

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Bibliographic Details
Main Authors: Won Young Heo, Shin Yi Jang, Taek Kyu Park, Chang‐Seok Ki, Jong‐Won Kim, Duk‐Kyung Kim, Ja‐Hyun Jang
Format: Article
Language:English
Published: Wiley 2023-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
COL3A1
mRNA sequencing
SpliceAI
vascular Ehlers‐Danlos syndrome
whole‐genome sequencing
Online Access:https://doi.org/10.1002/mgg3.2240

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