Literature DB >> 27870194

Gray platelet syndrome: Novel mutations of the NBEAL2 gene.

Roberta Bottega1, Elena Nicchia2, Caterina Alfano3, Ana C Glembotsky4, Annalisa Pastore3, Debora Bertaggia-Calderara5, Bettina Bisig6, Michel A Duchosal5, Guillermo Arbesú7, Lorenzo Alberio5, Paula G Heller4, Anna Savoia1,2.   

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Year:  2017        PMID： 27870194     DOI： 10.1002/ajh.24610

Source DB:  PubMed          Journal:  Am J Hematol        ISSN： 0361-8609            Impact factor:   10.047


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  2 in total

1.  Nbeal2 interacts with Dock7, Sec16a, and Vac14.

Authors:  Louisa Mayer; Maria Jasztal; Mercedes Pardo; Salvadora Aguera de Haro; Janine Collins; Tadbir K Bariana; Peter A Smethurst; Luigi Grassi; Romina Petersen; Paquita Nurden; Rémi Favier; Lu Yu; Stuart Meacham; William J Astle; Jyoti Choudhary; Wyatt W Yue; Willem H Ouwehand; Jose A Guerrero
Journal:  Blood       Date:  2017-11-29       Impact factor: 22.113

2.  Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.

Authors:  José M Bastida; María L Lozano; Rocío Benito; Kamila Janusz; Verónica Palma-Barqueros; Mónica Del Rey; Jesús M Hernández-Sánchez; Susana Riesco; Nuria Bermejo; Hermenegildo González-García; Agustín Rodriguez-Alén; Carlos Aguilar; Teresa Sevivas; María F López-Fernández; Anna E Marneth; Bert A van der Reijden; Neil V Morgan; Steve P Watson; Vicente Vicente; Jesús M Hernández-Rivas; José Rivera; José R González-Porras
Journal:  Haematologica       Date:  2017-10-05       Impact factor: 9.941
  2 in total

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