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

来源：

JOURNAL OF DERMATOLOGICAL SCIENCE | 2010年 / 57卷 / 01期

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

页码：59 / 61

页数：3

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