A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia

被引：27

作者：

Arostegui, Juan I. ^{[2
]}

Sanchez de Toledo, Jose ^{[1
]}

Pascal, Mariona ^{[2
]}

Garcia, Carlos ^{[3
]}

Yaguee, Jordi ^{[2
]}

Diaz de Heredia, Cristina ^{[1
]}

机构：

[1] Hosp Infantil Vall Hebron, Serv Hematol & Oncol Pediat, Barcelona 08035, Spain

[2] Hosp Clin Barcelona, IDIBAPS, Ctr Diagnost Biomed, Serv Inmunol, Barcelona, Spain

[3] ABS Les Borges Camp, Tarragona, Spain

来源：

BLOOD | 2009年 / 114卷 / 08期

关键词：

MUTATIONS; ELASTASE; ELA2;

D O I：

10.1182/blood-2009-04-219451

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：1718 / 1719

页数：2

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