Further observations on familial hypobetaliproteinaemia
- 1 February 1976
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 9 (2) , 149-155
- https://doi.org/10.1111/j.1399-0004.1976.tb01561.x
Abstract
A family with hypobetalipoproteinemia with 10 affected members is described. In 6 patients low density lipoprotein cholesterol (LDL-c) concentrations were about 10% of normal. In 4, LDL-c was reduced to about 50% of normal; these 4 patients probably represent the intermediate form of hypobetalipoproteinemia. This variation in total cholesterol concentration and LDL-c among the affected individuals of the same family could reflect differences of expression in a single aberrant gene or additive expression of a gene at a 2nd locus.This publication has 11 references indexed in Scilit:
- Familial hypo- -lipoproteinaemiaArchives of Disease in Childhood, 1973
- A CONTRIBUTION TO THE KNOWLEDGE OF THE HYPO‐β‐LIPOPROTEINEMIAActa Medica Scandinavica, 1973
- Estimation of the Concentration of Low-Density Lipoprotein Cholesterol in Plasma, Without Use of the Preparative UltracentrifugeClinical Chemistry, 1972
- Familial hypo-β-lipoproteinemiaThe American Journal of Medicine, 1969
- Congenital β-lipoprotein deficiencyThe American Journal of Medicine, 1966
- The use of zinctetracycline as a fluorescent stain for the serum lipoproteins in immunoelectrophoresisClinica Chimica Acta; International Journal of Clinical Chemistry, 1965
- ON HAVING NO BETA-LIPOPROTEIN A SYNDROME COMPRISING A-BETA-LIPOPROTEINÆMIA, ACANTHOCYTOSIS, AND STEATORRHŒAThe Lancet, 1960
- Sulfosalicylic acid as a substitute for paratoluene sulfonic acidClinica Chimica Acta; International Journal of Clinical Chemistry, 1960
- Hypocholesteremia in Idiopathic SteatorrheaA.M.A. Archives of Internal Medicine, 1960
- Phosphorus Assay in Column ChromatographyJournal of Biological Chemistry, 1959