Showing results (1-10 of 293) with videos related to
Sort By:
Pageof 30
Human Genetics|June 1, 1993
Two new polymorphisms in the coding sequence of the LDL receptor (LDLR) geneB Saint-Jore, N Loux, C Junien, et al.Human Mutation|January 1, 1997
Familial ligand-defective apolipoprotein B-100: simultaneous detection of the ARG3500-->GLN and ARG3531-->CYS mutations in a French populationJ P Rabès, M Varret, B Saint-Jore, et al.Human Mutation|January 1, 1992
Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism methodN Loux, B Saint-Jore, G Collod, et al.Human Genetics|July 1, 1991
Recurrent mutation at aa 792 in the LDL receptor gene in a French patientN Loux, P Benlian, D Pastier, et al.European Journal of Human Genetics : EJHG|August 22, 2000
Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defectsB Saint-Jore, M Varret, C Dachet, et al.Nucleic Acids Research|January 1, 1996
Software and database for the analysis of mutations in the human FBN1 geneG Collod, C Béroud, T Soussi, et al.Human Mutation|December 29, 1999
UMD (Universal mutation database): a generic software to build and analyze locus-specific databasesC Béroud, G Collod-Béroud, C Boileau, et al.The Journal of Clinical Investigation|January 1, 1991
Anderson's disease: genetic exclusion of the apolipoprotein-B gene in two familiesM Pessah, P Benlian, I Beucler, et al.Nucleic Acids Research|January 1, 1997
Software and database for the analysis of mutations in the human LDL receptor geneM Varret, J P Rabès, G Collod-Béroud, et al.Biochemical and Biophysical Research Communications|January 15, 1993
Genetic exclusion of apo-B gene in recessive abetalipoproteinemiaM Pessah, I Beucler, N Loux, et al.Pageof 30