Key result
A software package and computerized database containing 63 entries have been created to facilitate mutational analysis of the FBN1 gene in Marfan syndrome and related conditions.
Population
Mutations in the human FBN1 gene related to Marfan syndrome and phenotypically related conditions
Design
Other
Loading...
May facilitate FBN1 analysis in Marfan syndrome; leaves open prospective validation before clinical adoption.
A software package and database have been created to facilitate the mutational analysis of the FBN1 gene in Marfan syndrome and related disorders.
A 1996 study studied Marfan syndrome and related conditions (n=63). Software package and computerized database was evaluated. A software package and computerized database containing 63 entries have been created to facilitate mutational analysis of the FBN1 gene in Marfan syndrome and related conditions.
Synapse has enriched 3 closely related papers on similar clinical questions. Consider them for comparative context: