Paola Conca Silvana Pileggi Sara Simonelli Emanuela Boer Giuliano Boscutti Lucia Magnolo Patrizia Tarugi Silvana Penco Guido Franceschini Laura Calabresi Monica Gomaraschi
10.1016/j.jacl.2012.01.006
J Clin Lipidol
2012 May-Jun;6(3):244-50.
CC BY
https://pubmed.ncbi.nlm.nih.gov/22658148/
Apolipoproteins B / genetics Hypobetalipoproteinemias / genetics Lecithin Cholesterol Acyltransferase Deficiency / genetics Phosphatidylcholine-Sterol O-Acyltransferase / genetics
Apolipoproteins B / genetics Hypobetalipoproteinemias / genetics Lecithin Cholesterol Acyltransferase Deficiency / genetics Phosphatidylcholine-Sterol O-Acyltransferase / genetics Case Reports Research Support, Non-U.S. Gov't Apolipoprotein A-I / blood Cholesterol, HDL / blood Esterification Heterozygote Humans Hypobetalipoproteinemias / therapy Italy Kidney Transplantation Lecithin Cholesterol Acyltransferase Deficiency / therapy Male Middle Aged Mutation, Missense Pedigree Sequence Analysis, DNA Triglycerides / blood Apolipoprotein A-I Apolipoproteins B Cholesterol, HDL Triglycerides Phosphatidylcholine-Sterol O-Acyltransferase
PMC3361081
22658148
Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia
2012