… 1) demonstrate tight linkage between fibrillin and the Marfan syndrome … fibrillin is defective
in patients with Marfan syndrome, we searched for disease-producing mutations in the fibrillin-…

… Here we have both situations: a recurrent missense mutation … and an identical mutation
which is believed to be de novo in a … a single missense founder mutation in the FBN1 gene (c.…

… Genetic analysis revealed that she was heterozygous for a de novo FBN1 missense mutation
… Here, we present a novel missense mutation associated with nMFS, which leads to a …

… a de novo point mutation in the fibrillin-1 gene in two unrelated … Only 11 of the 137 entries
represent recurrent mutations. … skipping associated with nonsense mutations in the skipped …

… Hayward C, Porteous MEM, Brock DJH (1994c) Identification of a novel nonsense
mutation in the fibrillin gene (FBN1) using nonisotopic techniques. Hum Mutat 3:159–162. …

… The Marfan syndrome, an autosomal dominant heritable disorder of … DA, Francomano CA
(1991) Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. …

… of the connective tissue due to mutations of Fibrillin-1 gene (… the site of non-Cys missense
mutations within the cbEGF-like … and one de novo, with isolated EL, two with Marfan-like …

… ofa recurrent de novo missense mutation in the fibrillin gene as the cause of disease in two
… Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. …

… , EJ, Curristin, SM, Stetten, G., Meyers, DA, Francomano, CA (1991) Marfan syndrome
caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 352, 337-339. 5. …

… Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. …
phenotype variability in a family segregating a missense mutation in the epidermal growth …