Title : The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.

Pub. Date : 2016 Jan

PMID : 26373698






2 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 Thirty-one and three patients have been reported with MC-EDS so far with bi-allelic mutations identified in CHST14 and DSE, respectively, encoding two enzymes necessary for dermatan sulfate (DS) biosynthesis. Dermatan Sulfate carbohydrate sulfotransferase 14 Homo sapiens
2 Thirty-one and three patients have been reported with MC-EDS so far with bi-allelic mutations identified in CHST14 and DSE, respectively, encoding two enzymes necessary for dermatan sulfate (DS) biosynthesis. Dermatan Sulfate carbohydrate sulfotransferase 14 Homo sapiens