Complexity in a monogenic disease

被引:78
作者
Estivill, X [1 ]
机构
[1] HOSP CLIN BARCELONA,GENET SERV,BARCELONA,CATALUNYA,SPAIN
关键词
D O I
10.1038/ng0496-348
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:348 / 350
页数:3
相关论文
共 30 条
[1]   NUCLEOSIDE TRIPHOSPHATES ARE REQUIRED TO OPEN THE CFTR CHLORIDE CHANNEL [J].
ANDERSON, MP ;
BERGER, HA ;
RICH, DP ;
GREGORY, RJ ;
SMITH, AE ;
WELSH, MJ .
CELL, 1991, 67 (04) :775-784
[2]  
BRILLIANT MH, 1994, MAMM GENOME, V5, pS104
[3]  
CHILLON M, 1995, AM J HUM GENET, V56, P623
[4]   MUTATIONS IN THE CYSTIC-FIBROSIS GENE IN PATIENTS WITH CONGENITAL ABSENCE OF THE VAS-DEFERENS [J].
CHILLON, M ;
CASALS, T ;
MERCIER, B ;
BASSAS, L ;
LISSENS, W ;
SILBER, S ;
ROMEY, MC ;
RUIZROMERO, J ;
VERLINGUE, C ;
CLAUSTRES, M ;
NUNES, V ;
FEREC, C ;
ESTIVILL, X .
NEW ENGLAND JOURNAL OF MEDICINE, 1995, 332 (22) :1475-1480
[5]   VARIABLE DELETION OF EXON-9 CODING SEQUENCES IN CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE MESSENGER-RNA TRANSCRIPTS IN NORMAL BRONCHIAL EPITHELIUM [J].
CHU, CS ;
TRAPNELL, BC ;
MURTAGH, JJ ;
MOSS, J ;
DALEMANS, W ;
JALLAT, S ;
MERCENIER, A ;
PAVIRANI, A ;
LECOCQ, JP ;
CUTTING, GR ;
GUGGINO, WB ;
CRYSTAL, RG .
EMBO JOURNAL, 1991, 10 (06) :1355-1363
[6]   GENERATION AND CHARACTERIZATION OF A DELTA-F508 CYSTIC-FIBROSIS MOUSE MODEL [J].
COLLEDGE, WH ;
ABELLA, BS ;
SOUTHERN, KW ;
RATCLIFF, R ;
JIANG, CW ;
CHENG, SH ;
MACVINISH, LJ ;
ANDERSON, JR ;
CUTHBERT, AW ;
EVANS, MJ .
NATURE GENETICS, 1995, 10 (04) :445-452
[7]   2 PATIENTS WITH CYSTIC-FIBROSIS, NONSENSE MUTATIONS IN EACH CYSTIC-FIBROSIS GENE, AND MILD PULMONARY-DISEASE [J].
CUTTING, GR ;
KASCH, LM ;
ROSENSTEIN, BJ ;
TSUI, LC ;
KAZAZIAN, HH ;
ANTONARAKIS, SE .
NEW ENGLAND JOURNAL OF MEDICINE, 1990, 323 (24) :1685-1689
[8]   LUNG-DISEASE IN THE CYSTIC-FIBROSIS MOUSE EXPOSED TO BACTERIAL PATHOGENS [J].
DAVIDSON, DJ ;
DORIN, JR ;
MCLACHLAN, G ;
RANALDI, V ;
LAMB, D ;
DOHERTY, C ;
GOVAN, J ;
PORTEOUS, DJ .
NATURE GENETICS, 1995, 9 (04) :351-357
[9]   CYSTIC-FIBROSIS IN THE MOUSE BY TARGETED INSERTIONAL MUTAGENESIS [J].
DORIN, JR ;
DICKINSON, P ;
ALTON, EWFW ;
SMITH, SN ;
GEDDES, DM ;
STEVENSON, BJ ;
KIMBER, WL ;
FLEMING, S ;
CLARKE, AR ;
HOOPER, ML ;
ANDERSON, L ;
BEDDINGTON, RSP ;
PORTEOUS, DJ .
NATURE, 1992, 359 (6392) :211-215
[10]  
DORK T, 1991, HUM GENET, V87, P441