[Molecular biology of familial hypercholesterolemia].
The causes and mechanisms of production of familial hypercholesterolemia at molecular level is reviewed. This is a monogenic hereditary disease that frequently affects the human being it is one of the supports in the existing relationship between hypercholesterolemia and acute heart infarction. Important advances in the diagnosis and treatment of this disease have been achieved with the profound knowledge of the biochemical alteration.
Pellicer Thoma
E
E
Blanco Vaca
F
F
Gómez Gerique
J A
JA
D002477:Cells / Q000378:metabolism; D002784:Cholesterol / Q000378:metabolism; D005796:Genes; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D008967:Molecular Biology; D011973:Receptors, LDL / Q000235:genetics / Q000378:metabolism
D011973:Receptors, LDL; D002784:Cholesterol
Biología molecular de la hipercolesterolemia familiar.