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NEL280507A08.pdf
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🔗 Source: nel.edu
📊 Size: 167 KB
📄 Pages: 4 pages
⬇️ Downloads: 51

Summary

A novel non-synonymous mutation, c.3022T>C (C1008R), in the transforming growth factor β binding protein-like (TB) domain of the fibrillin-1 (FBN1) gene was found in a Han Chinese family with Marfan syndrome (MFS). The mutation was present in the proband and two other affected family members, but not in unaffected family members or unrelated control subjects, suggesting its involvement in the pathogenesis of MFS.

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A novel non-synonymous mutation, c.3022T>C (C1008R), in the transforming growth factor β binding protein-like (TB) domain of the fibrillin-1 (FBN1) gene was...

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  • File Format: PDF
  • File Size: 167 KB
  • Pages: 4
  • Language: EN
  • Total Downloads: 51
  • Last Updated: 1 month ago

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