Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis

被引：66
|
作者：
Clementi, R
zur Stadt, U
Savoldi, G
Varotto, S
Conter, V
De Fusco, C
Notarangelo, LD
Schneider, M
Klersy, C
Janka, G
Danesino, C
Aricò, M
机构：
[1] Univ Pavia, I-27100 Pavia, Italy
[2] Univ Hamburg, Childrens Hosp, Dept Paediat Haematol & Oncol, Hamburg, Germany
[3] Univ Brescia, Pediat Clin, Ist Med Mol Angelo Nocivelli, I-25121 Brescia, Italy
[4] Univ Padua, Pediat Clin, I-35100 Padua, Italy
[5] Univ Milano Bicocca, Osped San Gerardo, Pediat Clin, Monza, Italy
[6] Osped Pausilipon, Naples, Italy
[7] Univ Ulm, Sect Expt Anaesthesiol, D-89069 Ulm, Germany
[8] IRCCS Policlin San Matteo, Biometry & Clin Epidemiol Serv, Pavia, Italy
[9] IRCCS Policlin San Matteo, Pediat Clin, Pavia, Italy
来源：
JOURNAL OF MEDICAL GENETICS | 2001年 / 38卷 / 09期
关键词：
D O I：
10.1136/jmg.38.9.643
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：643 / 646
页数：4
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