A new mouse model of Ehlers-Danlos syndrome generated using CRISPR/Cas9-mediated genomic editing
Musculocontractural Ehlers-Danlos syndrome (mcEDS) is caused by generalized depletion of dermatan sulfate (DS) due to biallelic pathogenic variants in CHST14 encoding dermatan 4-O-sulfotransferase 1 (D4ST1) (mcEDS-CHST14). Here, we generated mouse models for mcEDS-CHST14 carrying homozygous mutation...
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| Autors principals: | , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
The Company of Biologists
2021-12-01
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| Col·lecció: | Disease Models & Mechanisms |
| Matèries: | |
| Accés en línia: | http://dmm.biologists.org/content/14/12/dmm048963 |
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