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 COL5A1 and COL5A2 genes, though causative mutations in the COL1A1 gene have also been describe...

Descripción completa

Detalles Bibliográficos
Autores principales: Junkiert-Czarnecka, Anna, Pilarska-Deltow, Maria, Bąk, Aneta, Heise, Marta, Latos-Bieleńska, Anna, Zaremba, Jacek, Bartoszewska-Kubiak, Alicja, Haus, Olga
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9164033/
https://www.ncbi.nlm.nih.gov/pubmed/35723357
http://dx.doi.org/10.3390/cimb44040099

Ejemplares similares

Ejemplares similares