Cystic fibrosis mutational spectrum and genotypic/phenotypic features in Greek-Cypriots, with emphasis on dehydration as presenting symptom

被引:18
作者
Yiallouros, P. K.
Neocleous, V.
Zeniou, M.
Adamidou, T.
Costi, C.
Christophi, C.
Tzetis, M.
Kanavakis, E.
Deltas, C.
机构
[1] Univ Cyprus, Dept Biol Sci, Lab Mol & Med Genet, CY-1678 Nicosia, Cyprus
[2] Cyprus Inst Neurol & Genet, Nicosia, Cyprus
[3] Nicosia Gen Hosp, Chest Clin, Nicosia, Cyprus
[4] Univ Athens, St Sofia Childrens Hosp, Dept Med Genet, GR-10679 Athens, Greece
关键词
D O I
10.1111/j.1399-0004.2007.00760.x
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:290 / 292
页数:3
相关论文
共 12 条
[1]  
BOTEVA K, 1994, HUM GENET, V93, P529
[2]  
CONSTANTINOU CDD, 2004, ANN CYPRUS RES CTR, V30, P457
[3]  
Constantinou-Deltas C. D., 1992, Human Mutation, V1, P503, DOI 10.1002/humu.1380010609
[4]  
Corneli H M, 1985, Pediatr Emerg Care, V1, P190, DOI 10.1097/00006565-198512000-00005
[5]   Description of a symptomless cystic fibrosis L346P/M348K compound heterozygous Cypriot individual [J].
Deltas, CC ;
Boteva, K ;
Georgiou, A ;
Papageorgiou, E ;
Georgiou, C .
MOLECULAR AND CELLULAR PROBES, 1996, 10 (04) :315-318
[6]  
Frossard PM, 1999, EUR RESPIR J, V13, P100
[7]   Metabolic alkalosis with hypoelectrolytemia in infants with cystic fibrosis [J].
Fustik, S ;
Pop-Jordanova, N ;
Slaveska, N ;
Koceva, S ;
Efremov, G .
PEDIATRICS INTERNATIONAL, 2002, 44 (03) :289-292
[8]   DIFFERENCES IN EXPRESSION OF CYSTIC-FIBROSIS IN BLACKS AND WHITES [J].
MCCOLLEY, SA ;
ROSENSTEIN, BJ ;
CUTTING, GR .
AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1991, 145 (01) :94-97
[9]  
SHOSHANI T, 1992, AM J HUM GENET, V50, P222
[10]  
SOJO A, 1994, EUR J PEDIATR, V153, P825