Literature DB >> 27416581

Two novel ITGA2B mutations in a Glanzmann thrombasthaenia family associated with different platelet phenotypic expression.

Viviana Daidone1, Loredana Bury2, Marta Milan3, Eva Galletta3, Paolo Gresele2, Alessandra Casonato3.   

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Year:  2016        PMID： 27416581      PMCID： PMC5589712          DOI： 10.2450/2016.0055-16

Source DB:  PubMed          Journal:  Blood Transfus        ISSN： 1723-2007            Impact factor:   3.443


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  5 in total

1.  Carrier detection in Glanzmann thrombasthenia: comparison of flow cytometry and Western blot with respect to DNA mutation.

Authors:  Meganathan Kannan; Firdos Ahmad; Birendra Kumar Yadav; Pratik Kumar; Paresh Jain; Rajive Kumar; Renu Saxena
Journal:  Am J Clin Pathol       Date:  2008-07       Impact factor: 2.493

Review 2.  Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models.

Authors:  Alan T Nurden; Mathieu Fiore; Paquita Nurden; Xavier Pillois
Journal:  Blood       Date:  2011-09-13       Impact factor: 22.113

3.  [Mutation screening and prenatal diagnosis of a pedigree with Glanzmann's thrombasthenia].

Authors:  Wen Li; Jin-lei Liu; Lu-yun Li; Guang-xiu Lu
Journal:  Zhonghua Yi Xue Yi Chuan Xue Za Zhi       Date:  2011-06

Review 4.  Understanding the genetic basis of Glanzmann thrombasthenia: implications for treatment.

Authors:  Alan T Nurden; Xavier Pillois; Paquita Nurden
Journal:  Expert Rev Hematol       Date:  2012-10       Impact factor: 2.929

5.  Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia.

Authors:  Loredana Bury; Emanuela Falcinelli; Davide Chiasserini; Timothy A Springer; Joseph E Italiano; Paolo Gresele
Journal:  Haematologica       Date:  2015-10-09       Impact factor: 9.941
  5 in total

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