| http://purl.uniprot.org/citations/12957688 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12957688 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12957688 | http://www.w3.org/2000/01/rdf-schema#comment | "We studied a four-generation family (17 subjects) with familial lecithin:cholesterol acyltransferase (LCAT) deficiency. A 30-year-old Caucasian male with corneal clouding and HDL cholesterol <0.1 mmol/l was a compound heterozygote for a novel mutation (Phe(382)-->Val), a previously reported mutation (Thr321-->Met) and a common variant (Thr208-->Ser) of the gene. Immunoreactive LCAT concentration (1.2 microg/ml), alpha-LCAT activity (13 nmol/ml per h) and cholesterol esterification rate (CER) (14 nmol/ml per h) in his plasma were, respectively, 14, 8 and 14% of the mean values in healthy subjects. The proband and 13 of his relatives also had familial defective apo B (FDB, Arg3500-->Gln). Six subjects had LCAT Phe382-->Val in combination with FDB. Plasma lipoprotein(a) (Lp(a)) was 24 nmol/l in the proband and 46-211 nmol/l in his father and siblings, consistent with expression of the 16 kringle 4 isoform. The proband had no signs of coronary heart disease (CHD), but his father, a paternal uncle and a female cousin had CHD before age 38 years."xsd:string |
| http://purl.uniprot.org/citations/12957688 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0021-9150(03)00241-7"xsd:string |
| http://purl.uniprot.org/citations/12957688 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0021-9150(03)00241-7"xsd:string |
| http://purl.uniprot.org/citations/12957688 | http://purl.uniprot.org/core/author | "Crook D."xsd:string |
| http://purl.uniprot.org/citations/12957688 | http://purl.uniprot.org/core/author | "Crook D."xsd:string |
| http://purl.uniprot.org/citations/12957688 | http://purl.uniprot.org/core/author | "Miller N.E."xsd:string |
| http://purl.uniprot.org/citations/12957688 | http://purl.uniprot.org/core/author | "Miller N.E."xsd:string |
| http://purl.uniprot.org/citations/12957688 | http://purl.uniprot.org/core/author | "Marcovina S."xsd:string |
| http://purl.uniprot.org/citations/12957688 | http://purl.uniprot.org/core/author | "Marcovina S."xsd:string |
| http://purl.uniprot.org/citations/12957688 | http://purl.uniprot.org/core/author | "Cooke C.J."xsd:string |
| http://purl.uniprot.org/citations/12957688 | http://purl.uniprot.org/core/author | "Cooke C.J."xsd:string |
| http://purl.uniprot.org/citations/12957688 | http://purl.uniprot.org/core/author | "Kastelein J.P."xsd:string |
| http://purl.uniprot.org/citations/12957688 | http://purl.uniprot.org/core/author | "Kastelein J.P."xsd:string |
| http://purl.uniprot.org/citations/12957688 | http://purl.uniprot.org/core/author | "Molhuizen H.O."xsd:string |
| http://purl.uniprot.org/citations/12957688 | http://purl.uniprot.org/core/author | "Molhuizen H.O."xsd:string |
| http://purl.uniprot.org/citations/12957688 | http://purl.uniprot.org/core/author | "Nanjee M.N."xsd:string |
| http://purl.uniprot.org/citations/12957688 | http://purl.uniprot.org/core/author | "Nanjee M.N."xsd:string |
| http://purl.uniprot.org/citations/12957688 | http://purl.uniprot.org/core/author | "Stocks J."xsd:string |
| http://purl.uniprot.org/citations/12957688 | http://purl.uniprot.org/core/author | "Stocks J."xsd:string |
| http://purl.uniprot.org/citations/12957688 | http://purl.uniprot.org/core/date | "2003"xsd:gYear |
| http://purl.uniprot.org/citations/12957688 | http://purl.uniprot.org/core/date | "2003"xsd:gYear |
| http://purl.uniprot.org/citations/12957688 | http://purl.uniprot.org/core/name | "Atherosclerosis"xsd:string |
| http://purl.uniprot.org/citations/12957688 | http://purl.uniprot.org/core/name | "Atherosclerosis"xsd:string |