CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome
CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome
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London: Nature Publishing Group UK
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English
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London: Nature Publishing Group UK
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Loss-of-function mutations in capillary morphogenesis gene 2 (CMG2/ANTXR2), a transmembrane surface protein, cause hyaline fibromatosis syndrome (HFS), a severe genetic disorder that is characterized by large subcutaneous nodules, gingival hypertrophy and severe painful joint contracture. Here we show that CMG2 is an important regulator of collagen...
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CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome
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TN_cdi_doaj_primary_oai_doaj_org_article_4a3ba698348d47b29640ed06c5b22c1a
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_4a3ba698348d47b29640ed06c5b22c1a
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ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/ncomms15861
