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New variants in COL5A1 gene among Polish patients with Ehlers-Danlos syndrome: analysis of nine cases

INTRODUCTION: The Ehlers-Danlos syndrome (EDS) is a non-inflammatory, heritable connective tissue disorder divided into 13 types according to the 2017 International Classification of the Ehlers-Danlos syndromes. One of the subtypes of EDS, classical (cEDS), is characterized by joint hypermobility, s...

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Detalles Bibliográficos
Autores principales:	Junkiert-Czarnecka, Anna, Pilarska-Deltow, Maria, Bąk, Aneta, Heise, Marta, Haus, Olga
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Termedia Publishing House 2019
Materias:	Original Paper
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6409875/ https://www.ncbi.nlm.nih.gov/pubmed/30858776 http://dx.doi.org/10.5114/ada.2018.79440

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