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Published in 2019 at "Genes"
DOI: 10.3390/genes11010043
Abstract: Musculocontractural Ehlers–Danlos Syndome (mcEDS) is a type of EDS caused by biallelic pathogenic variants in the gene for carbohydrate sulfotransferase 14/dermatan 4-O-sulfotransferase 1 (CHST14/D4ST1, mcEDS-CHST14), or in the gene for dermatan sulfate epimerase (DSE, mcEDS-DSE).…
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Keywords:
musculocontractural ehlers;
skin;
glycosaminoglycan chains;
ehlers danlos ... See more keywords