Multimutational analysis of eleven cystic fibrosis mutations common in the Mediterranean areas

被引:5
作者
Farez-Vidal, ME
Gómez-Llorente, C
Blanco, S
Morales, P
Casals, T
Gómez-Capilla, JA
机构
[1] Univ Granada, Hosp San Cecilio, Serv Bioquim, Granada 18012, Spain
[2] Univ Granada, Dept Bioquim & Biol Mol, Granada, Spain
[3] Hosp 12 Octubre, Serv Inmunol, E-28041 Madrid, Spain
[4] Hosp Duran I Reynals, IRO, Barcelona, Spain
关键词
D O I
10.1373/clinchem.2004.032300
中图分类号
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号
1001 ;
摘要
[No abstract available]
引用
收藏
页码:2155 / 2157
页数:3
相关论文
共 10 条
[1]  
[Anonymous], CYST FIBR MUT DAT
[2]   Cystic fibrosis: A worldwide analysis of CFTR mutations - Correlation with incidence data and application to screening [J].
Bobadilla, JL ;
Macek, M ;
Fine, JP ;
Farrell, PM .
HUMAN MUTATION, 2002, 19 (06) :575-606
[3]   High heterogeneity for cystic fibrosis in Spanish families:: 75 mutations account for 90% of chromosomes [J].
Casals, T ;
Ramos, MD ;
Giménez, J ;
Larriba, S ;
Nunes, V ;
Estivill, X .
HUMAN GENETICS, 1997, 101 (03) :365-370
[4]  
Estivill X, 1997, HUM MUTAT, V10, P135, DOI 10.1002/(SICI)1098-1004(1997)10:2<135::AID-HUMU6>3.3.CO
[5]  
2-P
[6]  
Farrell P M, 2000, Adv Pediatr, V47, P79
[7]   Analysis of 31 CFTR mutations in 55 families from the South of Spain [J].
Gómez-Llorente, MA ;
Suarez, A ;
Gómez-Llorente, C ;
Muñoz, A ;
Arauzo, M ;
Antunez, A ;
Navarro, M ;
Gil, A ;
Gómez-Capilla, JA .
EARLY HUMAN DEVELOPMENT, 2001, 65 :S161-S164
[8]   Influence of neonatal screening and centralized treatment on long-term clinical outcome and survival of CF patients [J].
Mérelle, ME ;
Schouten, JP ;
Gerritsen, J ;
Dankert-Roelse, JE .
EUROPEAN RESPIRATORY JOURNAL, 2001, 18 (02) :306-315
[9]   DNA technology for the detection of common genetic variants that predispose to thrombophilia [J].
Pecheniuk, NM ;
Walsh, TP ;
Marsh, NA .
BLOOD COAGULATION & FIBRINOLYSIS, 2000, 11 (08) :683-700
[10]   Clinical outcomes of newborn screening for cystic fibrosis [J].
Waters, DL ;
Wilcken, B ;
Irwig, L ;
Van Asperen, P ;
Mellis, C ;
Simpson, JM ;
Brown, J ;
Gaskin, KJ .
ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION, 1999, 80 (01) :F1-F7