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In Vivo Studies of Mutant Fibrillin-1 Microfibrils
In humans, mutations in fibrillin-1 result in a variety of genetic disorders with distinct clinical phenotypes. While most of the known mutations in fibrillin-1 cause Marfan syndrome, a number of other mutations lead to clinical features unrelated to Marfan syndrome. Pathogenesis of Marfan syndrome...
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| Hlavní autoři: | , , , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
American Society for Biochemistry and Molecular Biology
2010
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2915730/ https://ncbi.nlm.nih.gov/pubmed/20529844 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M110.130021 |
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