GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme

被引：13

作者：

Bottega, Roberta ^{[1
]}

Marzollo, Antonio ^{[2
,3
]}

Marinoni, Maddalena ^{[4
]}

Athanasakis, Emmanouil ^{[1
]}

Persico, Ilaria ^{[5
,6
]}

Bianco, Anna Monica ^{[1
]}

Faleschini, Michela ^{[1
]}

Valencic, Erica ^{[1
]}

Simoncini, Daniela ^{[7
]}

Rossini, Linda ^{[8
]}

Corsolini, Fabio ^{[9
]}

La Bianca, Martina ^{[1
]}

Robustelli, Giuseppe ^{[4
]}

Gabelli, Maria ^{[2
]}

Agosti, Massimo ^{[4
]}

Biffi, Alessandra ^{[2
]}

Grotto, Paolo ^{[8
]}

Bozzi, Valeria ^{[9
]}

Noris, Patrizia ^{[9
,10
]}

Burlina, Alberto B. ^{[11
]}

d'Adamo, Adamo Pio ^{[1
,5
]}

Tommasini, Alberto ^{[1
,5
]}

Faletra, Flavio ^{[1
]}

Pastore, Annalisa ^{[12
,13
]}

Savoia, Anna ^{[1
,5
]}

机构：

[1] IRCCS Burlo Garofolo, Ist Maternal & Child Hlth, Trieste, Italy

[2] Padua Univ Hosp, Pediat Hematol Oncol & Stem Cell Transplant Div, Padua, Italy

[3] Ist Ric Pediat, Fdn Citta Speranza, Padua, Italy

[4] F Del Ponte Hosp, Maternal & Child Dept, Varese, Italy

[5] Univ Trieste, Dept Med Sci, Trieste, Italy

[6] Univ Autonoma Barcelona, Dept Genet & Microbiol, Barcelona, Spain

[7] Ist Giannina Gaslini, LABSIEM Lab Study Inborn Errors Metab Pediat Cli, Genoa, Italy

[8] Hosp Treviso Oderzo, Pediat Dept, Treviso, Italy

[9] IRCCS Policlin San Matteo Fdn, Biotechnol Res Labs, Pavia, Italy

[10] Univ Pavia, Dept Internal Med & Med Therapy, Pavia, Italy

[11] Univ Hosp Padova, Dept Women & Childrens Hlth, Reg Ctr Expanded Neonatal Screening, Div Inherited Metab Dis, Padua, Italy

[12] Kings Coll London, Dept Clin Neurosci, Denmark Hill Campus, London, England

[13] European Synchrotron Radiat Facil 71, Grenoble, France

来源：

HAEMATOLOGICA | 2022年 / 107卷 / 03期

关键词：

KINASE; MYOPATHY;

D O I：

10.3324/haematol.2021.279689

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：750 / 754

页数：5

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