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

被引：67

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

页码：643 / 646

页数：4

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