Mosaicism in tuberous sclerosis as a potential cause of the failure of molecular diagnosis

被引：85

作者：

Kwiatkowska, J

Wigowska-Sowinska, J

Napierala, D

Slomski, R

Kwiatkowski, DJ

机构：

[1] Brigham & Womens Hosp, Div Expt Med & Med Oncol, Boston, MA 02115 USA

[2] Polish Acad Sci, Inst Human Genet, PL-60479 Poznan, Poland

[3] Univ Med Sci, Dept Dev Neurol, Poznan, Poland

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 1999年 / 340卷 / 09期

关键词：

D O I：

10.1056/NEJM199903043400905

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：703 / 707

页数：5

共 27 条

[1] Unilateral agminated angiofibromas: A segmental expression of tuberous sclerosis? [J].

Anliker, MD ;

Dummer, R ;

Burg, G .

DERMATOLOGY, 1997, 195 (02) :176-178

[2] Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients [J].

Au, KS ;

Rodriguez, JA ;

Finch, JL ;

Volcik, KA ;

Roach, ES ;

Delgado, MR ;

Rodriguez, E ;

Northrup, H .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (02) :286-294

[3] THE IMPORTANCE OF GENETIC MOSAICISM IN HUMAN-DISEASE [J].

BERNARDS, A ;

GUSELLA, JF .

NEW ENGLAND JOURNAL OF MEDICINE, 1994, 331 (21) :1447-1449

[4]

Carbonara C, 1996, GENE CHROMOSOME CANC, V15, P18, DOI 10.1002/(SICI)1098-2264(199601)15:1<18::AID-GCC3>3.0.CO

[5]

2-7

[6] Genetic testing: The problems and the promise [J].

Eng, C ;

Vijg, J .

NATURE BIOTECHNOLOGY, 1997, 15 (05) :422-426

[7]

Gomez M.R., 1988, TUBEROUS SCLEROSIS, VSecond

[8] LOSS OF HETEROZYGOSITY ON CHROMOSOME 16P13.3 IN HAMARTOMAS FROM TUBEROUS SCLEROSIS PATIENTS [J].

GREEN, AJ ;

SMITH, M ;

YATES, JRW .

NATURE GENETICS, 1994, 6 (02) :193-196

[9]

HALL JG, 1988, AM J HUM GENET, V43, P355

[10]

Henske EP, 1996, AM J HUM GENET, V59, P400

← 1 2 3 →