Fibrillin abnormalities and prognosis in
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Aoyama, Takeshi ;Francke, Uta ;Gasner, Cheryll ;Furthmayr, Heinz
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Article
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1995
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John Wiley and Sons
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English
⚖ 843 KB
Marfan syndrome (MFS), a multisystem autosomal-dominant disorder, is characterized by mutations of the fibrillin-1 (FBNI) gene and by abnormal patterns of synthesis, secretion, and matrix deposition of the fibrillin protein. To determine the sensitivity and specificity of fibrillin protein abnormali