Submicroscopic deletions of the APC gene:: a frequent cause of familial adenomatous polyposis that may be overlooked by conventional mutation scanning

被引：13

作者：

Flintoff, KJ ^{[1
]}

Sheridan, E ^{[1
]}

Turner, G ^{[1
]}

Chu, CE ^{[1
]}

Taylor, GR ^{[1
]}

机构：

[1] St Jamess Univ, Teaching Hosp, Dept Clin Genet, Yorkshire Reg DNA Lab, Leeds LS9 7TF, W Yorkshire, England

来源：

JOURNAL OF MEDICAL GENETICS | 2001年 / 38卷 / 02期

关键词：

D O I：

10.1136/jmg.38.2.129

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：129 / 132

页数：4

共 33 条

[1] Familial adenomatous polyposis (FAP) and its gene, APC
Bodmer, W
[J]. CYTOGENETICS AND CELL GENETICS, 1999, 86 (02): : 99 - 104
[2] LOCALIZATION OF THE GENE FOR FAMILIAL ADENOMATOUS POLYPOSIS ON CHROMOSOME-5
BODMER, WF
BAILEY, CJ
BODMER, J
BUSSEY, HJR
ELLIS, A
GORMAN, P
LUCIBELLO, FC
MURDAY, VA
RIDER, SH
SCAMBLER, P
SHEER, D
SOLOMON, E
SPURR, NK
[J]. NATURE, 1987, 328 (6131) : 614 - 616
[3] BORRIELLO F, 1994, DIAGN MOL PATHOL, V3, P246
[4] CA REPEAT POLYMORPHISM AT THE D5S82 LOCUS, PROXIMAL TO ADENOMATOUS POLYPOSIS-COLI (APC)
BREUKEL, C
TOPS, C
VANLEEUWEN, C
VANDERKLIFT, H
NAKAMURA, Y
FODDE, R
KHAN, PM
[J]. NUCLEIC ACIDS RESEARCH, 1991, 19 (20) : 5804 - 5804
[5] AT REPEAT POLYMORPHISM AT THE D5S122 LOCUS TIGHTLY LINKED TO ADENOMATOUS POLYPOSIS-COLI (APC)
BREUKEL, C
TOPS, C
VANLEEUWEN, C
VANDERKLIFT, H
FODDE, R
KHAN, PM
[J]. NUCLEIC ACIDS RESEARCH, 1991, 19 (23) : 6665 - 6665
[6] DENOVO DNA MICRODELETION IN A GIRL WITH TURNER SYNDROME AND DUCHENNE MUSCULAR-DYSTROPHY
CHELLY, J
MARLHENS, F
LEMAREC, B
JEANPIERRE, M
LAMBERT, M
HAMARD, G
DUTRILLAUX, B
KAPLAN, JC
[J]. HUMAN GENETICS, 1986, 74 (02) : 193 - 196
[7] MOLECULAR ANALYSIS OF APC MUTATIONS IN FAMILIAL ADENOMATOUS POLYPOSIS AND SPORADIC COLON CARCINOMAS
COTTRELL, S
BICKNELL, D
KAKLAMANIS, L
BODMER, WF
[J]. LANCET, 1992, 340 (8820) : 626 - 630
[8] CUTTING GR, 1988, MOL BIOL MED, V5, P173
[9] Three submicroscopic deletions at the APC locus and their rapid detection by quantitative-PCR analysis
De Rosa, M
Scarano, MI
Panariello, L
Carlomagno, N
Rossi, GB
Tempesta, A
Borgheresi, P
Renda, A
Izzo, P
[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 1999, 7 (06) : 695 - 703
[10] IDENTIFICATION AND CHARACTERIZATION OF THE FAMILIAL ADENOMATOUS POLYPOSIS-COLI GENE
GRODEN, J
THLIVERIS, A
SAMOWITZ, W
CARLSON, M
GELBERT, L
ALBERTSEN, H
JOSLYN, G
STEVENS, J
SPIRIO, L
ROBERTSON, M
SARGEANT, L
KRAPCHO, K
WOLFF, E
BURT, R
HUGHES, JP
WARRINGTON, J
MCPHERSON, J
WASMUTH, J
LEPASLIER, D
ABDERRAHIM, H
COHEN, D
LEPPERT, M
WHITE, R
[J]. CELL, 1991, 66 (03) : 589 - 600

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