A NEW MUTATION (1078DELT) IN EXON-7 OF THE CFTR GENE IN A SOUTHERN FRENCH ADULT WITH CYSTIC-FIBROSIS

被引：24

作者：

CLAUSTRES, M

GERRARD, B

WHITE, MB

DESGEORGES, M

KJELLBERG, P

ROLLIN, B

DEAN, M

机构：

[1] NCI,FREDERICK CANC RES & DEV CTR,VIRAL CARCINOGENESIS LAB,FREDERICK,MD 21702

[2] DYN CORP,PROGRAM RESOURCES INC,BIOL CARCINOGENESIS & DEV PROGRAM,FREDERICK,MD 21702

来源：

GENOMICS | 1992年 / 13卷 / 03期

关键词：

D O I：

10.1016/0888-7543(92)90187-W

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

[No abstract available]

引用

页码：907 / 908

页数：2

共 8 条

[1] CYSTIC-FIBROSIS TYPING WITH DNA PROBES AND SCREENING FOR DELTA-F508 DELETION IN FAMILIES FROM SOUTHERN FRANCE [J].

CLAUSTRES, M ;

DESGEORGES, M ;

KJELLBERG, P ;

BELLET, H ;

DEMAILLE, J ;

RAMSAY, M .

HUMAN GENETICS, 1990, 85 (04) :398-399

[2]

Cystic Fibrosis Genetic Anal Consortium, 1990, AM J HUM GENET, V47, P354

[3] MULTIPLE MUTATIONS IN HIGHLY CONSERVED RESIDUES ARE FOUND IN MILDLY AFFECTED CYSTIC-FIBROSIS PATIENTS [J].

DEAN, M ;

WHITE, MB ;

AMOS, J ;

GERRARD, B ;

STEWART, C ;

KHAW, KT ;

LEPPERT, M .

CELL, 1990, 61 (05) :863-870

[4] THE SEARCH FOR SOUTH EUROPEAN CYSTIC-FIBROSIS MUTATIONS - IDENTIFICATION OF 2 NEW MUTATIONS, 4 VARIANTS, AND INTRONIC SEQUENCES [J].

GASPARINI, P ;

NUNES, V ;

SAVOIA, A ;

DOGNINI, M ;

MORRAL, N ;

GAONA, A ;

BONIZZATO, A ;

CHILLON, M ;

SANGIUOLO, F ;

NOVELLI, G ;

DALLAPICCOLA, B ;

PIGNATTI, PF ;

ESTIVILL, X .

GENOMICS, 1991, 10 (01) :193-200

[5] IDENTIFICATION OF THE CYSTIC-FIBROSIS GENE - GENETIC-ANALYSIS [J].

KEREM, BS ;

ROMMENS, JM ;

BUCHANAN, JA ;

MARKIEWICZ, D ;

COX, TK ;

CHAKRAVARTI, A ;

BUCHWALD, M ;

TSUI, LC .

SCIENCE, 1989, 245 (4922) :1073-1080

[6] 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

[7] DETECTION OF 3 RARE FRAMESHIFT MUTATIONS IN THE CYSTIC-FIBROSIS GENE IN AN AFRICAN-AMERICAN (CF444DELA), AN ITALIAN (CF2522INSC), AND A SOVIET (CF3821DELT) [J].

WHITE, MB ;

KRUEGER, LJ ;

HOLSCLAW, DS ;

GERRARD, BC ;

STEWART, C ;

QUITTELL, L ;

DOLGANOV, G ;

BARANOV, V ;

IVASCHENKO, T ;

KAPRONOV, NI ;

SEBASTIO, G ;

CASTIGLIONE, O ;

DEAN, M .

GENOMICS, 1991, 10 (01) :266-269

[8]

1990, HUM GENET, V85, P436

← 1 →