Article
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
Human mutation - 1 Sept 2007
Comeglio Paolo, Johnson Philip, Arno Gavin, Brice Glen, Evans Alison, Aragon-Martin José, da Silva Filipe Pereira, Kiotsekoglou Anatoli, Child Anne
Abstract excerpt
Mutations in the FBN1 gene have been characterised in patients affected by Marfan syndrome and Marfan-related disorders. Starting with genomic DNA, we analysed the FBN1 gene using PCR, SSCP and/or dHPLC analysis, and automatic sequencing of abnormal bands/peaks, in a consecutive series of 508 patients, of which 22 were children less than 5 years old. Our results are comparable with those reported by other groups....
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