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Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method.

Archive ouverte | Loux, Nathalie | CCSD

To investigate the molecular basis of familial hypercholesterolemia (FH) in France, we applied the single strand conformation polymorphism (SSCP) method to the promoter region and the 18 exons of the low density lipoprotein recept...

Software and database for the analysis of mutations in the human FBN1 gene

Archive ouverte | Collod, Gwenaelle | CCSD

International audience. Fibrillin is the major component of extracellular microfibrils. Mutations in the fibrillin gene on chromosome 15 (FBN1) were described at first in the heritable connective tissue disorder, Ma...

Reply to “The question of heterogeneity in Marfan syndrome”

Archive ouverte | Boileau, Catherine | CCSD

International audience

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