Bernard-Soulier syndrome in a patient doubly heterozygous for two frameshift mutations in the glycoprotein Ibα gene
Author:
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1365-2141.2000.02261.x/fullpdf
Reference11 articles.
1. Bernard-Soulier syndrome caused by a dinucleotide deletion and reading frameshift in the region encoding the glycoprotein Ibα transmembrane domain;Afshar-Kharghan;Blood,1997
2. Glycoprotein V-deficient platelets have undiminished thrombin responsiveness and do not exhibit a Bernard-Soulier phenotype;Kahn;Blood,1999
3. A dinucleotide deletion results in defective membrane anchoring and circulating soluble glycoprotein Ibα in a novel form of Bernard-Soulier syndrome;Kenny;Blood,1997
4. Molecular characterization of two mutations in platelet glycoprotein (GP) Ibα in two Finnish Bernard-Soulier syndrome families;Koskela;European Journal of Haematology,1999
5. Missense mutations of the glycoprotein (GP) Ibβ gene impairing the GPIb α/β disulfide linkage in a family with giant platelet disorder;Kunishima;Blood,1997
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1. Novel Compound Heterozygous Mutations in Two Families With Bernard–Soulier Syndrome;Frontiers in Pediatrics;2021-01-22
2. Gene of the issue: GP1BA gene mutations associated with bleeding;Platelets;2017-09-29
3. Spectrum of the Mutations in Bernard-Soulier Syndrome;Human Mutation;2014-07-15
4. A A386G biallelic GPIb gene mutation with anomalous behavior: a new mechanism suggested for Bernard-Soulier syndrome pathogenesis;Haematologica;2011-10-11
5. Flow cytometry as a tool in the diagnosis of Bernard-Soulier Syndrome in Brazilian patients;Platelets;2009-01
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