Two novel mutations of the NF1 gene in Chinese Han families with type I neurofibromatosis

被引：5

作者：

Cai, YJ

Fan, ZP

Liu, QJ

Du, J

Shen, Y

Wang, SL

机构：

[1] Capital Univ Med Sci, Fac Stomatol, Mol Lab Gene Therapy, Beijing 100050, Peoples R China

[2] Beijing Hosp, Dept Stomatol, Beijing 100730, Peoples R China

[3] Chinese Natl Human Genome Ctr, Beijing 100176, Peoples R China

[4] Chinese Acad Med Sci, Peking Union Med Coll, Inst Basic Med Sci, Natl Lab Med Mol Biol, Beijing 100005, Peoples R China

来源：

JOURNAL OF DERMATOLOGICAL SCIENCE | 2005年 / 39卷 / 02期

关键词：

D O I：

10.1016/j.jdermsci.2005.05.003

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：125 / 127

页数：3

共 10 条

[1] Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1 [J].

Ars, E ;

Serra, E ;

García, J ;

Kruyer, H ;

Gaona, A ;

Lázaro, C ;

Estivill, X .

HUMAN MOLECULAR GENETICS, 2000, 9 (02) :237-247

[2]

Crowe FW, 1956, A Clinical, Pathological and Genetic Study of Multiple Neurofibromatosis

[3] Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the CAP-related domain [J].

Fahsold, R ;

Hoffmeyer, S ;

Mischung, C ;

Gille, C ;

Ehlers, C ;

Kücükceylan, N ;

Abdel-Nour, M ;

Gewies, A ;

Peters, H ;

Kaufmann, D ;

Buske, A ;

Tinschert, S ;

Nürnberg, P .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (03) :790-818

[4] Hypermethylation of the neurofibromatosis type 1 (NF1) gene promoter is not a common event in the inactivation of the NF1 gene in NF1-specific tumours [J].

Horan, MP ;

Cooper, DN ;

Upadhyaya, M .

HUMAN GENETICS, 2000, 107 (01) :33-39

[5] A GENETIC-STUDY OF VONRECKLINGHAUSEN NEUROFIBROMATOSIS IN SOUTH EAST WALES .1. PREVALENCE, FITNESS, MUTATION-RATE, AND EFFECT OF PARENTAL TRANSMISSION ON SEVERITY [J].

HUSON, SM ;

COMPSTON, DAS ;

CLARK, P ;

HARPER, PS .

JOURNAL OF MEDICAL GENETICS, 1989, 26 (11) :704-711

[6] PATERNAL ORIGIN OF NEW MUTATIONS IN VONRECKLINGHAUSEN NEUROFIBROMATOSIS [J].

JADAYEL, D ;

FAIN, P ;

UPADHYAYA, M ;

PONDER, MA ;

HUSON, SM ;

CAREY, J ;

FRYER, A ;

MATHEW, CGP ;

BARKER, DF ;

PONDER, BAJ .

NATURE, 1990, 343 (6258) :558-559

[7] Site-specific DNA methylation in the neurofibromatosis (NF1) promoter interferes with binding of CREB and SP1 transcription factors [J].

Mancini, DN ;

Singh, SM ;

Archer, TK ;

Rodenhiser, DI .

ONCOGENE, 1999, 18 (28) :4108-4119

[8]

QIU WQ, 1992, HEREDITAS BEIJING, V14, P17

[9]

Rasmussen SA, 2000, AM J EPIDEMIOL, V151, P33, DOI 10.1093/oxfordjournals.aje.a010118

[10] Neurofibromas in NF1: Schwann cell origin and role of tumor environment [J].

Zhu, Y ;

Ghosh, P ;

Charnay, P ;

Burns, DK ;

Parada, LF .

SCIENCE, 2002, 296 (5569) :920-922

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