Gray platelet syndrome: Novel mutations of the NBEAL2 gene

被引:10
作者
Bottega, Roberta [1 ]
Nicchia, Elena [2 ]
Alfano, Caterina
Glembotsky, Ana C. [3 ]
Pastore, Annalisa
Bertaggia-Calderara, Debora [4 ]
Bisig, Bettina [5 ,6 ]
Duchosal, Michel A. [4 ]
Arbesu, Guillermo [7 ]
Alberio, Lorenzo [4 ]
Heller, Paula G. [3 ]
Savoia, Anna [1 ,2 ]
机构
[1] Univ Trieste, Dept Med Sci, I-34127 Trieste, Italy
[2] Inst Maternal & Child Hlth IRCCS Burlo Garofolo, Trieste, Italy
[3] Univ Buenos Aires, CONICET, Inst Invest Med Alfredo Lanari, Buenos Aires, DF, Argentina
[4] Univ Hosp Lausanne CHUV, Serv & Cent Lab Hematol, Lausanne, Switzerland
[5] CHUV Univ Hosp, Inst Pathol, Lausanne, Switzerland
[6] Univ Lausanne, CH-1015 Lausanne, Switzerland
[7] Hosp Pediat Dr Humberto Notti, Mendoza, Argentina
关键词
THROMBOCYTOPENIA;
D O I
10.1002/ajh.24610
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:E20 / E22
页数:3
相关论文
共 6 条
[1]   Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency [J].
Bottega, Roberta ;
Pecci, Alessandro ;
De Candia, Erica ;
Pujol-Moix, Nuria ;
Heller, Paula G. ;
Noris, Patrizia ;
De Rocco, Daniela ;
Podda, Gian Marco ;
Glembotsky, Ana C. ;
Cattaneo, Marco ;
Balduini, Carlo L. ;
Savoia, Anna .
HAEMATOLOGICA, 2013, 98 (06) :868-874
[2]   The BEACH Is Hot: A LYST of Emerging Roles for BEACH-Domain Containing Proteins in Human Disease [J].
Cullinane, Andrew R. ;
Schaeffer, Alejandro A. ;
Huizing, Marjan .
TRAFFIC, 2013, 14 (07) :749-766
[3]   Megakaryocytic emperipolesis and platelet function abnormalities in five patients with gray platelet syndrome [J].
Larocca, Luigi M. ;
Heller, Paula G. ;
Podda, Gianmarco ;
Pujol-Moix, Nuria ;
Glembotsky, Ana C. ;
Pecci, Alessandro ;
Alberelli, Maria Adele ;
Balduini, Carlo L. ;
Landolfi, Raffaele ;
Cattaneo, Marco ;
De Candia, Erica .
PLATELETS, 2015, 26 (08) :751-757
[4]   Molecular diagnosis of thrombocytopenia- absent radius syndrome using next-generation sequencing [J].
Nicchia, E. ;
Giordano, P. ;
Greco, C. ;
De Rocco, D. ;
Savoia, A. .
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, 2016, 38 (04) :412-418
[5]   The gray platelet syndrome: Clinical spectrum of the disease [J].
Nurden, Alan T. ;
Nurden, Paquita .
BLOOD REVIEWS, 2007, 21 (01) :21-36
[6]   Should any genetic defect affecting α-granules in platelets be classified as gray platelet syndrome? [J].
Nurden, Alan T. ;
Nurden, Paquita .
AMERICAN JOURNAL OF HEMATOLOGY, 2016, 91 (07) :714-718