Literature DB >> 26275786

Low levels of CD9 coincidental with a novel nonsense mutation in glycoprotein Ibβ in a patient with Bernard-Soulier syndrome.

Jianlin Qiao1,2, Amanda K Davis3, Marie-Christine Morel-Kopp4, Christopher M Ward4, Elizabeth E Gardiner5, Robert K Andrews5.   

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Year:  2015        PMID: 26275786     DOI: 10.1007/s00277-015-2473-1

Source DB:  PubMed          Journal:  Ann Hematol        ISSN: 0939-5555            Impact factor:   3.673


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  3 in total

1.  Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.

Authors:  Suthesh Sivapalaratnam; Sarah K Westbury; Jonathan C Stephens; Daniel Greene; Kate Downes; Anne M Kelly; Claire Lentaigne; William J Astle; Eric G Huizinga; Paquita Nurden; Sofia Papadia; Kathelijne Peerlinck; Christopher J Penkett; David J Perry; Catherine Roughley; Ilenia Simeoni; Kathleen Stirrups; Daniel P Hart; R Campbell Tait; Andrew D Mumford; Michael A Laffan; Kathleen Freson; Willem H Ouwehand; Shinji Kunishima; Ernest Turro
Journal:  Blood       Date:  2016-11-14       Impact factor: 22.113

2.  A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia.

Authors:  Fabio Busonero; Maristella Steri; Valeria Orrù; Gabriella Sole; Stefania Olla; Michele Marongiu; Andrea Maschio; Carlo Sidore; Sandra Lai; Antonella Mulas; Magdalena Zoledziewska; Matteo Floris; Mauro Pala; Paola Forabosco; Isadora Asunis; Maristella Pitzalis; Francesca Deidda; Marco Masala; Cristian Antonio Caria; Susanna Barella; Goncalo R Abecasis; David Schlessinger; Serena Sanna; Edoardo Fiorillo; Francesco Cucca
Journal:  Br J Haematol       Date:  2020-11-20       Impact factor: 8.615

3.  A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome.

Authors:  Magdalena Skalníková; Kateřina Staňo Kozubík; Jakub Trizuljak; Zuzana Vrzalová; Lenka Radová; Kamila Réblová; Radka Holbová; Terézia Kurucová; Hana Svozilová; Jiří Štika; Ivona Blaháková; Barbara Dvořáčková; Marie Prudková; Olga Stehlíková; Michal Šmída; Leoš Křen; Petr Smejkal; Šárka Pospíšilová; Michael Doubek
Journal:  Int J Mol Sci       Date:  2022-01-14       Impact factor: 5.923

  3 in total

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