Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis

被引：155

作者：

Lee, SM

Villanueva, J

Sumegi, J

Zhang, K

Kogawa, K

Davis, J

Filipovich, AH

机构：

[1] Cincinnati Childrens Hosp, Med Ctr, Div Hematol Oncol, Cincinnati, OH 45229 USA

[2] Cincinnati Childrens Hosp, Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA

[3] Natl Def Med Coll, Dept Pediat, Tokorozawa, Saitama 359, Japan

[4] Univ Nebraska, Med Ctr, Dept Pathol & Microbiol, Omaha, NE USA

来源：

JOURNAL OF MEDICAL GENETICS | 2004年 / 41卷 / 02期

关键词：

D O I：

10.1136/jmg.2003.011528

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：137 / 144

页数：8

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