Characterisation of six large deletions in TSC2 identified using long range PCR suggests diverse mechanisms including Alu mediated recombination

被引:12
作者
Dabora, SL
Nieto, AA
Franz, D
Jozwiak, S
van den Ouweland, A
Kwiatkowski, D
机构
[1] Brigham & Womens Hosp, Div Hematol, Boston, MA 02115 USA
[2] Childrens Hosp, Med Ctr, Div Pediat Neurol, Cincinnati, OH 45229 USA
[3] Childrens Mem Hosp, Dept Child Neurol, Warsaw, Poland
[4] Erasmus Univ, Dept Clin Genet, NL-3015 GE Rotterdam, Netherlands
[5] Univ Hosp, NL-3015 GE Rotterdam, Netherlands
关键词
D O I
10.1136/jmg.37.11.877
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:877 / 882
页数:6
相关论文
共 45 条
[1]   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
[2]  
Au KS, 1997, HUM MUTAT, V9, P23, DOI 10.1002/(SICI)1098-1004(1997)9:1<23::AID-HUMU4>3.3.CO
[3]  
2-8
[4]  
Beauchamp RL, 1998, HUM MUTAT, V12, P408, DOI 10.1002/(SICI)1098-1004(1998)12:6<408::AID-HUMU7>3.3.CO
[5]  
2-G
[6]   ASSOCIATION OF CROSSOVER POINTS WITH TOPOISOMERASE-I CLEAVAGE SITES - A MODEL FOR NONHOMOLOGOUS RECOMBINATION [J].
BULLOCK, P ;
CHAMPOUX, JJ ;
BOTCHAN, M .
SCIENCE, 1985, 230 (4728) :954-958
[7]   Characterization of single-nucleotide polymorphisms in coding regions of human genes [J].
Cargill, M ;
Altshuler, D ;
Ireland, J ;
Sklar, P ;
Ardlie, K ;
Patil, N ;
Lane, CR ;
Lim, EP ;
Kalyanaraman, N ;
Nemesh, J ;
Ziaugra, L ;
Friedland, L ;
Rolfe, A ;
Warrington, J ;
Lipshutz, R ;
Daley, GQ ;
Lander, ES .
NATURE GENETICS, 1999, 22 (03) :231-238
[8]   Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions [J].
Centra, M ;
Memeo, E ;
d'Apolito, M ;
Savino, M ;
Ianzano, L ;
Notarangelo, A ;
Liu, JM ;
Doggett, NA ;
Zelante, L ;
Savoia, A .
GENOMICS, 1998, 51 (03) :463-467
[9]   Superiority of Denaturing High Performance Liquid Chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2 [J].
Choy, YS ;
Dabora, SL ;
Hall, F ;
Ramesh, V ;
Niida, Y ;
Franz, D ;
Kasprzyk-Obara, J ;
Reeve, MP ;
Kwiatkowski, DJ .
ANNALS OF HUMAN GENETICS, 1999, 63 :383-391
[10]  
DABORA S, UNPUB GENOTYPE PHENO