ABCMdb

PMID: 22297561

Wang G, Cao L, Wang Z, Jiang M, Sun X, Bai X, Ruan C
Macrothrombocytopenia/Stomatocytosis specially associated with phytosterolemia.
Clin Appl Thromb Hemost. 2012 Nov;18(6):582-7. doi: 10.1177/1076029611435090. Epub 2012 Jan 31., [PubMed]

Sentences

No. Mutations Sentence Comment

67 ABCG5 p.Arg446* ABCG5 p.Arg446* The proband of family A was a homozygote for a C20896T nonsense mutation (R446X) which had been discovered.13 The 4 patients of family C were compound heterozygous for C20896T (R446X) and A20883G. Login to comment 68 ABCG5 p.Arg446* ABCG5 p.Arg446* The proband of family A was a homozygote for a C20896T nonsense mutation (R446X) which had been discovered.13 The 4 patients of family C were compound heterozygous for C20896T (R446X) and A20883G. Login to comment 71 ABCG5 p.Gln604Glu ABCG8 p.Thr400Lys In addition, several neutral polymorphisms, such as Q604E of ABCG5, C54Y, T400K, and A632V of ABCG8 which had been previously described were also found in this study (not shown). Login to comment 72 ABCG5 p.Gln604Glu ABCG8 p.Thr400Lys In addition, several neutral polymorphisms, such as Q604E of ABCG5, C54Y, T400K, and A632V of ABCG8 which had been previously described were also found in this study (not shown). Login to comment