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Published in 2023 at "Genes"
DOI: 10.3390/genes14020436
Abstract: 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…
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Keywords:
musculocontractural ehlers;
danlos syndrome;
models musculocontractural;
ehlers danlos ... See more keywords