(Q52999067)
Statements
A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype. (English)
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P Booms
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A P Withers
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M Boxer
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U C Kaufmann
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C Hagemeier
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U Vetter
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1 August 1997
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100
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195-200
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2
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Identifiers
1 reference