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Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.
Sivapalaratnam S, Westbury SK, Stephens JC, Greene D, Downes K, Kelly AM, Lentaigne C, Astle WJ, Huizinga EG, Nurden P, Papadia S, Peerlinck K, Penkett CJ, Perry DJ, Roughley C, Simeoni I, Stirrups K, Hart DP, Tait RC, Mumford AD; NIHR BioResource; Laffan MA, Freson K, Ouwehand WH, Kunishima S, Turro E. Sivapalaratnam S, et al. Among authors: huizinga eg. Blood. 2017 Jan 26;129(4):520-524. doi: 10.1182/blood-2016-08-732248. Epub 2016 Nov 14. Blood. 2017. PMID: 28064200 Free PMC article.
Epitope mapping of inhibitory antibodies against platelet glycoprotein Ibalpha reveals interaction between the leucine-rich repeat N-terminal and C-terminal flanking domains of glycoprotein Ibalpha.
Cauwenberghs N, Vanhoorelbeke K, Vauterin S, Westra DF, Romo G, Huizinga EG, Lopez JA, Berndt MC, Harsfalvi J, Deckmyn H. Cauwenberghs N, et al. Among authors: huizinga eg. Blood. 2001 Aug 1;98(3):652-60. doi: 10.1182/blood.v98.3.652. Blood. 2001. PMID: 11468163 Free article.
54 results