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Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos syndromes
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Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome
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b3galt6 knock-out zebrafish recapitulate β3GalT6-deficiency disorders in human and reveal a trisaccharide proteoglycan linkage region
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Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix
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- Journal Article
- A1
- open access
b3galt6 Knock-out zebrafish recapitulate β3GalT6-deficiency disorders in human and reveal a trisaccharide proteoglycan linkage region
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Heterozygous defects in collagen XII cause myopathic Ehlers-Danlos syndrome and lead to variant-specific alterations in the extracellular matrix
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Myopathic Ehlers-Danlos syndrome : expanding the clinical and mutational spectrum with five new families
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Novel defects in collagen XII and VI expand the mixed Myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix
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- Conference Paper
- C3
- open access
Novel defects in collagen XII and VI expand the mixed Myopathy/Ehlers-Danlos syndrome spectrum
-
Connecting muscle and matrix : clinical and molecular characterization of six new families with myopathic Ehlers-Danlos syndrome