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

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United States of America Patent

PATENT NO 8669049
SERIAL NO

10542937

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Abstract

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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.

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Patent OwnerAddress
PROGENIKA BIOPHARMA S APARQUE TECNOLOGICO DE BIZKAIA EDIFICIO 504 DERIO 48160

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Inventor(s)

Inventor Name Address # of filed Patents Total Citations
Alonso, Karlezi Rodrigo Alberto Barcelona, ES 1 1
Castillo, Fernandez Sergio Barcelona, ES 5 4
Mallen, Perez Miguel Barcelona, ES 1 1
Martinez, Martinez Antonio Barcelona, ES 19 46
Mata, Lopez Pedro Barcelona, ES 1 1
Mozas, Alonso Pilar Barcelona, ES 1 1
Pocovi, Mieras Miguel Barcelona, ES 2 4
Reyes, Leal Gilberto Barcelona, ES 1 1
Tejedor, Hernandez Diego Barcelona, ES 3 1

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