Positional cloning of the Fanconi anaemia group A gene

被引:246
作者
Apostolou, S
Whitmore, SA
Crawford, J
Lennon, G
Sutherland, GR
Callen, DF
Ianzano, L
Savino, M
DApolito, M
Notarangelo, A
Memeo, E
Piemontese, MR
Zelante, L
Savoia, A
Gibson, RA
Tipping, AJ
Morgan, NV
Hassock, S
Jansen, S
deRavel, TJ
VanBerkel, C
Pronk, JC
Easton, DF
Mathew, CG
Levran, O
Verlander, PC
Batish, SD
Erlich, T
Auerbach, AD
CletonJansen, AM
Moerland, EW
Cornelisse, CJ
Doggett, NA
Deaven, LL
Moyzis, RK
机构
[1] UMDS, GUYS HOSP, DIV MED & MOL GENET, LONDON SE1 9RT, ENGLAND
[2] ADELAIDE WOMENS & CHILDRENS HOSP, DEPT CYTOGENET & MOL GENET, ADELAIDE, SA 5006, AUSTRALIA
[3] LAWRENCE LIVERMORE NATL LAB, CTR HUMAN GENOME, LIVERMORE, CA 94550 USA
[4] UNIV ORANGE FREE STATE, DEPT HUMAN GENET, ZA-9301 BLOEMFONTEIN, SOUTH AFRICA
[5] UNIV WITWATERSRAND, S AFRICAN INST MED RES, DEPT HUMAN GENET, ZA-2050 WITWATERSRAND, SOUTH AFRICA
[6] FREE UNIV AMSTERDAM, DEPT HUMAN GENET, AMSTERDAM, NETHERLANDS
[7] UNIV CAMBRIDGE, INST PUBL HLTH, GENET EPIDEMIOL UNIT, CAMBRIDGE CB2 1TN, ENGLAND
[8] ROCKEFELLER UNIV, LAB HUMAN GENET & HEMATOL, NEW YORK, NY 10021 USA
[9] LEIDEN UNIV, DEPT PATHOL, LEIDEN, NETHERLANDS
[10] LOS ALAMOS NATL LAB, CTR HUMAN GENOME STUDIES, LOS ALAMOS, NM 87545 USA
[11] OSPED CASA SOLLIEVO SOFFERENZA, I-71013 SAN GIOVANNI ROTONDO, FOGGIA, ITALY
关键词
D O I
10.1038/ng1196-324
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:324 / 328
页数:5
相关论文
共 30 条
[11]  
2-F
[12]   A NONSENSE MUTATION AND EXON SKIPPING IN THE FANCONI-ANEMIA GROUP-C GENE [J].
GIBSON, RA ;
HAJIANPOUR, A ;
MURERORLANDO, M ;
BUCHWALD, M ;
MATHEW, CG .
HUMAN MOLECULAR GENETICS, 1993, 2 (06) :797-799
[13]  
Gschwend M, 1996, AM J HUM GENET, V59, P377
[14]   CLASSIFICATION OF FANCONI-ANEMIA PATIENTS BY COMPLEMENTATION ANALYSIS - EVIDENCE FOR A 5TH GENETIC SUBTYPE [J].
JOENJE, H ;
LO TEN FOE, JR ;
OOSTRA, AB ;
VANBERKEL, CGN ;
ROOIMANS, MA ;
SCHROEDERKURTH, T ;
WEGNER, RD ;
GILLE, JJP ;
BUCHWALD, M ;
ARWERT, F .
BLOOD, 1995, 86 (06) :2156-2160
[15]   STRATEGIES FOR MULTILOCUS LINKAGE ANALYSIS IN HUMANS [J].
LATHROP, GM ;
LALOUEL, JM ;
JULIER, C ;
OTT, J .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1984, 81 (11) :3443-3446
[16]   The IMAGE consortium: An integrated molecular analysis of genomes and their expression [J].
Lennon, G ;
Auffray, C ;
Polymeropoulos, M ;
Soares, MB .
GENOMICS, 1996, 33 (01) :151-152
[17]   FANCONI-ANEMIA AND NOVEL STRATEGIES FOR THERAPY [J].
LIU, JM ;
BUCHWALD, M ;
WALSH, CE ;
YOUNG, NS .
BLOOD, 1994, 84 (12) :3995-4007
[18]   Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA [J].
LoTenFoe, JR ;
Rooimans, MA ;
BosnoyanCollins, L ;
Alon, N ;
Wijker, M ;
Parker, L ;
Lightfoot, J ;
Carreau, M ;
Callen, DF ;
Savoia, A ;
Cheng, NC ;
vanBerkel, CGM ;
Strunk, MHP ;
Gille, JJP ;
Pals, G ;
Kruyt, FAE ;
Pronk, JC ;
Arwert, F ;
Buchwald, M ;
Joenje, H .
NATURE GENETICS, 1996, 14 (03) :320-323
[19]   A KNOWLEDGE BASE FOR PREDICTING PROTEIN LOCALIZATION SITES IN EUKARYOTIC CELLS [J].
NAKAI, K ;
KANEHISA, M .
GENOMICS, 1992, 14 (04) :897-911
[20]   RAPID AND SENSITIVE DETECTION OF POINT MUTATIONS AND DNA POLYMORPHISMS USING THE POLYMERASE CHAIN-REACTION [J].
ORITA, M ;
SUZUKI, Y ;
SEKIYA, T ;
HAYASHI, K .
GENOMICS, 1989, 5 (04) :874-879