ABCMdb

PMID: 20543520

Tsubakio-Yamamoto K, Nishida M, Nakagawa-Toyama Y, Masuda D, Ohama T, Yamashita S
Current therapy for patients with sitosterolemia--effect of ezetimibe on plant sterol metabolism.
J Atheroscler Thromb. 2010 Sep 30;17(9):891-900. Epub 2010 Jun 11., 2010-09-30 [PubMed]

Sentences

No. Mutations Sentence Comment

108 ABCG5 p.Arg419His ABCG5 p.Arg419His ABCG5 p.Arg389His ABCG5 p.Arg389His ABCG5 p.Gln604Glu ABCG5 p.Gln604Glu ABCG5 p.Arg550Ser ABCG5 p.Arg550Ser Location of the gene mutation and hematological/ biochemical laboratory data in case 1 (at the time of PCI) and case 2 (at the first visit) Case 1 Case 2 ABCG5 mutation WBC (/ L) RBC ( 104 / L) Hemoglobin (g/dL) Platelet ( 104 / L) AST (IU/L) ALT (IU/L) CRP (mg/dL) Total Cholesterol (mg/dL) LDL Cholesterol (mg/dL) HDL Cholesterol (mg/dL) Triglyceride (mg/dL) Sitosterol ( g/mL) Campesterol ( g/mL) Stigmasterol ( g/mL) A1756C (R550S) G1362A (R419H) 7,610 382 9.8 18.5 14 16 0.3 172 87 67 121 87.8 48.8 4.0 G1306A (R389H) C1949 (Q604E) 6,370 385 10.9 12.5 29 26 1.0 289 229 85 172 88.5 84.5 7.2 Fig.3. Login to comment