@article{oai:niigata-u.repo.nii.ac.jp:00022764,
 author = {三井田, 孝 and 柴田, 昭},
 issue = {10},
 journal = {新潟医学会雑誌, 新潟医学会雑誌},
 month = {Oct},
 note = {Familial hypercholesterolemia (FH) is one of the most common inherited disorders both in Caucasian countries and Japan. It had been already established that the genetic defects of low density lipoprotein receptors (LDL-R) resulted in FH. Homozygous FH were classified into three phenotypes (receptor negative, receptor defective and internalization defective type) according to their binding activity to LDL and internalization ability of the complex. Their allelic mutations were also divided into four classes (Class 1: failure of synthesis of LDL-R, Class 2: failure of LDL-R transport from endoplasmic reticulum to Golgi apparatus, Class 3: failure of binding of LDL-R to LDL, Class 4: failure of clustering of coated pits). Moreover, recent studies focused attention on the structure of LDL-R gene and their function. We reviewed these investigations and related them with the clinical manifestrations of FH, especially in heterozygotes, from our data and clinical experiences.},
 pages = {801--808},
 title = {3) LDLレセプターと家族性高コレステロール血症(シンポジウム レセプターとその臨床, 第443回新潟医学会)},
 volume = {103},
 year = {1989}
}