Next-Generation Sequencing of Connective Tissue Genes in Patients with Classical Ehlers-Danlos Syndrome

Next-Generation Sequencing of Connective Tissue Genes in Patients with Classical Ehlers-Danlos Syndrome

Background: Ehlers-Danlos syndrome (EDS) is a common non-inflammatory, congenital connective tissue disorder. Classical type (cEDS) EDS is one of the more common forms, typically caused by mutations in the <i>COL5A1</i> and <i>COL5A2</i> genes, though causative mutations in t...

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Bibliographic Details
Main Authors: Anna Junkiert-Czarnecka, Maria Pilarska-Deltow, Aneta Bąk, Marta Heise, Anna Latos-Bieleńska, Jacek Zaremba, Alicja Bartoszewska-Kubiak, Olga Haus
Format: Article
Language:English
Published: MDPI AG 2022-03-01
Series:Current Issues in Molecular Biology
Subjects:
Ehlers-Danlos syndrome
collagen
connective tissue
sequencing
NGS
Polish patients
Online Access:https://www.mdpi.com/1467-3045/44/4/99

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https://www.mdpi.com/1467-3045/44/4/99

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