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January 1, 1997Human Mutation

Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: Report of 12 novel mutations

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Authors

CHCaroline HaywardBoston UniversityMPMary PorteousInstitute of Genetics and CancerDBD. J. H. BrockWestern General Hospital

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Hayward et al. (1997) studied this question.

synapsesocial.com/papers/6a22e04776b749c0f26662ebhttps://doi.org/10.1002/(sici)1098-1004(1997)10:4<280::aid-humu3>3.0.co;2-l
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Revised diagnostic criteria for the Marfan syndrome1996 · 1,577 citations
  2. 2Immunohistologic Abnormalities of the Microfibrillar-Fiber System in the Marfan Syndrome1990 · 400 citations
  3. 3A Molecular Approach to the Stratification of Cardiovascular Risk in Families with Marfan's Syndrome1994 · 126 citations
  4. 4Delineation of the Marfan phenotype associated with mutations in exons 23–32 of theFBN1 gene1996 · 132 citations
  5. 5Modification of enzymatic-ally amplified DNA for the detection of point mutations1989 · 318 citations