Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome

被引：54
作者：
Badolato, Raffaele [1 ,2 ]
Prandini, Alberto [1 ,2 ,3 ]
Caracciolo, Sonia [1 ,2 ]
Colombo, Francesca [1 ,2 ]
Tabellini, Giovanna [4 ]
Giacomelli, Mauro [1 ,2 ,3 ]
Cantarini, Maria E. [5 ]
Pession, Andrea [5 ]
Bell, Callum J. [6 ]
Dinwiddie, Darrell L. [7 ]
Miller, Neil A. [7 ]
Hateley, Shannon L. [6 ]
Saunders, Carol J. [7 ]
Zhang, Lu [8 ]
Schroth, Gary P. [8 ]
Plebani, Alessandro [1 ,2 ]
Parolini, Silvia [4 ]
Kingsmore, Stephen F. [7 ]
机构：
[1] Univ Brescia, Pediat Clin, I-25123 Brescia, BS, Italy
[2] Univ Brescia, Angelo Nocivelli Inst Mol Med, I-25123 Brescia, BS, Italy
[3] Univ Trieste, Scuola Dottorato Sci Riprod & Sviluppo, Trieste, Italy
[4] Univ Brescia, Dipartimento Sci Biomed & Biotecnol, I-25123 Brescia, BS, Italy
[5] Univ Bologna, Div Oncoematol Pediat & Terapia Cellulare, Bologna, Italy
[6] Natl Ctr Genome Resources, Santa Fe, NM USA
[7] Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
[8] Illumina Inc, Hayward, CA USA
来源：
BLOOD | 2012年 / 119卷 / 13期
关键词：
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; ADAPTER; PROTEINS; PLDN; GENE; AP-3;
D O I：
10.1182/blood-2012-01-404350
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：3185 / 3187
页数：5
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