The same genetic defect in three Tunisian families with Bernard Soulier syndrome: a probable founder Stop mutation in GPIbbeta
Author:
Publisher
Springer Science and Business Media LLC
Subject
Hematology,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s00277-009-0763-1.pdf
Reference26 articles.
1. Andrews RK, López JA, Berndt MC (1997) Molecular mechanisms of platelet adhesion and activation. Int J Biochem Cell Biol 29:91–105. doi: 10.1016/S1357-2725(96)00122-7
2. Lopez JA (1994) The platelet glycoprotein Ib-IX complex. Blood Coagul Fibrinolysis 5:97–119
3. Lopez JA, Andrews RK, Afshar-Kharghan V, Berndt MC (1998) Bernard-Soulier syndrome. Blood 91:4397–4418
4. Miller JL, Lyle VA, Cunningham D (1992) Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib-alpha leucine tandem repeat occurring in patients with an autosomal dominant variety of Bernard-Soulier disease. Blood 79:439–446
5. Savoia A, Balduini CL, Savino M, Noris P, Del Vecchio M, Perrotta S, Belletti S, Poggi V, Iolascon A (2001) Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. Blood 97(5):1330–1335. doi: 10.1182/blood.V97.5.1330
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