title: [Abnormality of LDL receptor genes in familial hypercholesterolemia and the genetic diagnosis].
authors.forename: K
authors.initials: K
authors.lastname: Kajinami
authors.forename: J
authors.initials: J
authors.lastname: Koizumi
authors.forename: H
authors.initials: H
authors.lastname: Mabuchi
authors.forename: R
authors.initials: R
authors.lastname: Takeda
mesh_terms: D000818:Animals; D002784:Cholesterol / Q000096:biosynthesis; D005091:Exons; D005796:Genes; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D012150:Polymorphism, Restriction Fragment Length; D011973:Receptors, LDL / Q000235:genetics* / Q000378:metabolism
chemical_list: D011973:Receptors, LDL; D002784:Cholesterol