PMID: 25444527

Othman RA, Myrie SB, Mymin D, Merkens LS, Roullet JB, Steiner RD, Jones PJ
Ezetimibe reduces plant sterol accumulation and favorably increases platelet count in sitosterolemia.
J Pediatr. 2015 Jan;166(1):125-31. doi: 10.1016/j.jpeds.2014.08.069. Epub 2014 Oct 16., [PubMed]
Sentences
No. Mutations Sentence Comment
24 ABCG8 p.Ser107*
X
ABCG8 p.Ser107* 25444527:24:56
status: NEW
view ABCG8 p.Ser107* details
 All patients were identified as having homozygous ABCG8 S107X mutation (NM_022437.2:c.320C>G) and are related to a proband previously reported by Mymin et al21,22 and Chong et al.23 All procedures involving human patients were approved by the University of Manitoba Biomedical Ethics board and written informed consent was obtained from all patients. Login to comment