Progenika Biopharma S.a.

Diego Tejedor Hernandez

Antonio Martinez Martinez

Sergio Castillo Fernandez

Pedro Mata Lopez

Rodrigo Alberto Alonso Karlezi

Pilar Mozas Alonso

Gilberto Reyes Leal

Miguel Pocovi Mieras

Miguel Mallen Perez

Elisa Jimenez Uribe

Monica Lopez Martinez

Marta Artieda Osenalde

Lorena Hernandez Garcia

The invention relates to extracorporeal methods of analyzing the presence or absence of mutations which cause familial hypercholesterolemia. The inventive methods describe the way in which said mutations can be detected using a DNA sample from an individual and comprising the following: chain reaction of the polymerase with primers which are complementary to the low-density lipoprotein receptor gene; analysis of the amplified product by sequencing; restriction analysis; single strand conformation polymorphism techniques; heteroduplex analysis and analysis of a device on top of a biochip glass support on which oligonucleotide probes are disposed, which can be used to detect the aforementioned mutations in the DNA.

Method and device for the detection of mutations in isolated gene sequences of the low-density lipoprotein receptor (LDL-r) which is associated with familial hypercholesterolemia

An in vitro method for genotyping genetic variations in a individual, and products for use in the method.

Methods and products for in vitro genotyping

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Barcelona, Spain

Diego Tejedor Hernandez