Fibrillin microfibril structure identifies long-range effects of inherited pathogenic mutations affe...
Fibrillin microfibril structure identifies long-range effects of inherited pathogenic mutations affecting a key regulatory latent TGFβ-binding site
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New York: Nature Publishing Group US
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English
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New York: Nature Publishing Group US
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Genetic mutations in fibrillin microfibrils cause serious inherited diseases, such as Marfan syndrome and Weill–Marchesani syndrome (WMS). These diseases typically show major dysregulation of tissue development and growth, particularly in skeletal long bones, but links between the mutations and the diseases are unknown. Here we describe a detailed...
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Fibrillin microfibril structure identifies long-range effects of inherited pathogenic mutations affecting a key regulatory latent TGFβ-binding site
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10191836
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10191836
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ISSN
1545-9993,1545-9985
E-ISSN
1545-9985
DOI
10.1038/s41594-023-00950-8
