The H syndrome: Two novel mutations affecting the same amino acid residue of hENT3

被引:35
作者
Molho-Pessach, Vered [1 ,2 ]
Suarez, Jose [3 ]
Perrin, Christophe [4 ]
Chiaverini, Christine [5 ]
Doviner, Victoria [6 ]
Tristan-Clavijo, Enriqueta [7 ]
Colmenero, Isabel [8 ]
Giuliano, Fabienne [9 ]
Torrelo, Antonio [10 ]
Zlotogorski, Abraham [1 ,2 ]
机构
[1] Hadassah Hebrew Univ, Dept Dermatol, Med Ctr, IL-91200 Jerusalem, Israel
[2] Hadassah Hebrew Univ, Ctr Genet Dis Skin & Hair, Med Ctr, IL-91200 Jerusalem, Israel
[3] Hosp Univ Nuestra Senora Candelaria Santa Cruz Te, Dept Dermatol, Santa Cruz de Tenerife, Spain
[4] Nice Univ Hosp, Dept Pathol, Nice, France
[5] Nice Univ Hosp, Dept Dermatol, Nice, France
[6] Hadassah Hebrew Univ, Dept Pathol, Med Ctr, IL-91200 Jerusalem, Israel
[7] Univ Seville, Inst Biomed Sevilla, Hosp Univ Virgen del Rocio, CSIC, Seville, Spain
[8] Hosp Nino Jesus, Dept Pathol, Madrid, Spain
[9] Nice Univ Hosp, Dept Med Genet, Nice, France
[10] Hosp Nino Jesus, Serv Dermatol, Madrid, Spain
关键词
NUCLEOSIDE; TRANSPORTERS;
D O I
10.1016/j.jdermsci.2009.09.011
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
引用
收藏
页码:59 / 61
页数:3
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