Two novel TSC2 mutations in Chinese patients with tuberous sclerosis complex and a literature review of 20 patients reported in China

被引：6
作者：
Zhao, X. Y.
Yang, S.
Zhou, H. L.
Zhu, Y. G.
Wei, L.
Du, W. H.
Ren, Y. Q.
Liang, Y. H.
Hou, Y. X.
Chen, J. J.
Zhang, X. J.
机构：
[1] Anhui Med Univ, Hosp 1, Inst Dermatol, Hefei 230032, Anhui, Peoples R China
[2] Anhui Med Univ, Hosp 1, Dept Dermatol, Hefei 230032, Anhui, Peoples R China
[3] Key Lab Genome Res Anhui, Hefei, Anhui, Peoples R China
来源：
BRITISH JOURNAL OF DERMATOLOGY | 2006年 / 155卷 / 05期
关键词：
China; mutation; TSC2; tuberous sclerosis complex;
D O I：
10.1111/j.1365-2133.2006.07469.x
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
[No abstract available]
引用
收藏
页码：1070 / 1073
页数：4
相关论文
共 15 条
[1]   Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs [J].
Dabora, SL ;
Jozwiak, S ;
Franz, DN ;
Roberts, PS ;
Nieto, A ;
Chung, J ;
Choy, YS ;
Reeve, MP ;
Thiele, E ;
Egelhoff, JC ;
Kasprzyk-Obara, J ;
Domanska-Pakiela, D ;
Kwiatkowski, DJ .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (01) :64-80
[2]  
FANG L, 2001, CHIN J MED GENE, V18, P448
[3]  
FENG JH, 2003, CHIN J NEPHROL, V19, P120
[4]   Novel TSC2 Mutations and Decreased Expression of Tuberin in Cultured Tumor Cells with an Insertion Mutation [J].
Feng, Jian-Hua ;
Yamamoto, Toshiyuki ;
Nanba, Eiji ;
Ninomiya, Haruaki ;
Oka, Akira ;
Ohno, Kousaku .
HUMAN MUTATION, 2004, 23 (04) :397
[5]  
[冯建华 Feng Jianhua], 2003, [中华儿科杂志, Chinese Journal of Pediatrics], V41, P223
[6]   RAB5 CONTROLS EARLY ENDOSOME FUSION INVITRO [J].
GORVEL, JP ;
CHAVRIER, P ;
ZERIAL, M ;
GRUENBERG, J .
CELL, 1991, 64 (05) :915-925
[7]   Tumour suppressors hamartin and tuberin: intracellular signalling [J].
Krymskaya, VP .
CELLULAR SIGNALLING, 2003, 15 (08) :729-739
[8]  
NELLIST M, 1993, CELL, V75, P1305
[9]  
Niida Y, 1999, HUM MUTAT, V14, P412, DOI 10.1002/(SICI)1098-1004(199911)14:5<412::AID-HUMU7>3.0.CO
[10]  
2-K
12