New heterozygous variant in GP1BB gene is responsible for an inherited form of macrothrombocytopenia
Author:
Affiliation:
1. Department of Medicine; University of Padua Medical School; Padua Italy
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjh.15176/fullpdf
Reference10 articles.
1. Spectrum of 5′UTR mutations in ANKRD26 gene in patients with inherited thrombocytopenia: c.-140C>G mutation is more frequent than expected;Ferrari;Platelets,2017
2. A new heterozygous mutation in GP1BA gene responsible for macrothrombocytopenia;Ghalloussi;British Journal of Haematology,2017
3. Genetic abnormalities of Bernard-Soulier syndrome;Kunishima;International Journal of Hematology,2002
4. The organizing principle of the platelet glycoprotein Ib-IX-V complex;Li;Journal Thrombosis and Haemostasis,2013
5. Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation);Noris;Haematologica,2012
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1. The compound pathogenic effects of a homozygous frameshift variant in the transmembrane region of GP9, causing Bernard–Soulier syndrome, with a missense variant in GP1BB;British Journal of Haematology;2024-06-25
2. GP1BB c.179C > T is the most frequent cause of monoallelic Bernard–Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families;Annals of Hematology;2022-12-21
3. Biological, clinical features and modelling of heterozygous variants of glycoprotein Ib platelet subunit alpha ( GP1BA ) and glycoprotein Ib platelet subunit beta ( GP1BB ) genes responsible for constitutional thrombocytopenia;British Journal of Haematology;2022-09-29
4. Inherited Platelet Disorders: An Updated Overview;International Journal of Molecular Sciences;2021-04-26
5. A novel frameshift GP1BB mutation causes autosomal dominant macrothrombocytopenia with decreased vWF receptor expression but normal platelet aggregation;Platelets;2021-04-04
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