Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency
- 1 September 1991
- journal article
- research article
- Published by Elsevier in The Lancet
- Vol. 338 (8770), 778-781
- https://doi.org/10.1016/0140-6736(91)90665-c
Abstract
No abstract availableKeywords
Funding Information
- Ministry of Education, Culture, Sports, Science and Technology
- MSD Life Science Foundation, Public Interest Incorporated Foundation (HL 30086)
- National Heart, Lung, and Blood Institute
This publication has 15 references indexed in Scilit:
- Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated alleleHuman Genetics, 1990
- Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus.Proceedings of the National Academy of Sciences, 1988
- Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA PolymeraseScience, 1988
- Cloning and expression of human lecithin-cholesterol acyltransferase cDNA.Proceedings of the National Academy of Sciences, 1986
- Defective enzyme causes lecithin-cholesterol acyltransferase deficiency in a Japanese kindredBiochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism, 1985
- Familial Plasma Lecithin: Cholesterol Acyltransferase DeficiencyActa Medica Scandinavica, 1982
- Familial lecithin-cholesterol acyltransferase deficiency in a Japanese family: Evidence for functionally defective enzyme in homozygotes and obligate heterozygotesHuman Genetics, 1982
- Radioimmunoassay of human plasma lecithin-cholesterol acyltransferase.JCI Insight, 1981
- Familial Lecithin: Cholesterol Acyltransferase Deficiency Complicated with Unconjugated Hyperbilirubinemia and Peripheral NeuropathyActa Medica Scandinavica, 1978
- Familial Plasma Lecithin: Cholesterol Acyltransferase Deficiency Biochemical Study of a New Inborn Error of MetabolismScandinavian Journal of Clinical and Laboratory Investigation, 1967