Art

J-GLOBAL ID：200902188050000363   Reference number：02A0326104

Eight novel mutations and functional impairments of the LDL receptor in familial hypercholesterolemia in the north of Japan.

日本北部での家族性高コレステロール血症におけるLDL受容体の8種類の新規突然変異及び機能障害

Author (9)： HATTORI H (Nippon Medical School, Kawasaki, JPN) ,  HIRAYAMA T (Nippon Medical School, Kawasaki, JPN) ,  NOBE Y (Nippon Medical School, Kawasaki, JPN) ,  NAGANO M (BML Inc., Kawagoe, JPN) ,  KUJIRAOKA T (BML Inc., Kawagoe, JPN) ,  EGASHIRA T (BML Inc., Kawagoe, JPN) ,  ISHII J (Hokkaido Hospital for Social Health Insurance, Sapporo, JPN) ,  TSUJI M (Hokkaido Hospital for Social Health Insurance, Sapporo, JPN) ,  EMI M (Nippon Medical School, Kawasaki, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 47  Issue： 2  Page： 80-87  Publication year： 2002 
JST Material Number： Z0756A  ISSN： 1434-5161  Document type： Article
Article type： 短報  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： *familial hypercholesterolemia ,...

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JST classification (4)： Congenital diseases,deformities in general.  (GD03010V) ,  Clinical medicine on cardiovascular system in general  (GJ01030V) ,  Vasculature  (EJ04030O) ,  Molecular genetics in general  (EC02010J)

Reference (21)：

• CUTHBERT, JA. Detection of familial hypercholesterolemia by assaying functional low-density lipoprotein receptors on lymphocytes. N Engl J Med. 1986, 314, 879-883
• DAVIS, CG. Acid-dependent ligand dissociation and recycling of LDL receptor mediated by growth factor homology region. Nature. 1987, 326, 760-765
• FRIEDEWALD, TW. Estimation of the concentration of the low density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge. Clin Chem. 1972, 18, 499-502
• GOLDSTEIN, JL. Familial hypercholesterolemia. the metabolic basis of inherited disease. 1989, 1215-1250
• GRACIA, CK. Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. Science. 2001, 292, 1394-1398

Terms in the title (5)： 日本 ,  家族性高コレステロール血症 ,  LDL受容体 ,  突然変異 ,  機能障害