General Information:
Id: | 7,778 (click here to show other Interactions for entry) |
Diseases: |
Metabolic
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Homo sapiens | |
article | |
Reference: | Janecke AR et al.(2016) The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations Am. J. Med. Genet. A 170A: 103-115 [PMID: 26373698] |
Interaction Information:
Comment | Ehlers-Danlos syndrome is caused by bi-allelic mutations in the genes CHST14 and DSE encoding two enzymes necessary for dermatan sulfate biosynthesis. |
Formal Description Interaction-ID: 77718 |
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