Gaucher disease in Tunisia: High frequency of the most common mutations

被引:8
作者
Cherif, Wafa [1 ,2 ]
Ben Turkia, Hadhami [2 ]
Ben Rhouma, Faten [1 ,3 ]
Riahi, Imene [2 ]
Chemli, Jalel [4 ]
Kefi, Rym [1 ]
Messai, Habib [1 ]
Amaral, Olga [5 ]
Sa Miranda, Maria Clara [5 ]
Caillaud, Catherine [6 ]
Tebib, Neji [2 ]
Ben Dridi, Marie Francoise
Abdelhak, Sonia [1 ]
机构
[1] Inst Pasteur Tunis, Mol Invest Genet Orphan Dis Res Unit, Tunis, Tunisia
[2] La Rabta Hosp, Dept Pediat, Inherited Metab Dis Unit, Tunis, Tunisia
[3] Fac Med, Child Neurol Dis Unit, Tunis, Tunisia
[4] Sahloul Hosp, Dept Pediat, Sousse, Tunisia
[5] Univ Porto, Neurobiol Genet Dept, Biol Mol & Cellular Inst, Oporto, Portugal
[6] Fac Med, Metab Genet Lab, Paris, France
关键词
GLUCOCEREBROSIDASE GENE;
D O I
10.1016/j.bcmd.2009.05.004
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:161 / +
页数:2
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