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Mouse Models of Musculocontractural Ehlers-Danlos Syndrome

Musculocontractural Ehlers-Danlos syndrome (mcEDS) is a subtype of EDS caused by mutations in the gene for carbohydrate sulfotransferase 14 (CHST14) (mcEDS-CHST14) or dermatan sulfate epimerase (DSE) (mcEDS-DSE). These mutations induce loss of enzymatic activity in D4ST1 or DSE and disrupt dermatan...

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Detalles Bibliográficos
Autores principales: Yoshizawa, Takahiro, Kosho, Tomoki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957544/
https://www.ncbi.nlm.nih.gov/pubmed/36833362
http://dx.doi.org/10.3390/genes14020436