IDENTIFICATION OF 8 NOVEL MUTATIONS IN A COLLABORATIVE ANALYSIS OF A PART OF THE 2ND TRANSMEMBRANE DOMAIN OF THE CFTR GENE

被引：41

作者：

MERCIER, B

LISSENS, W

NOVELLI, G

KALAYDJIEVA, L

DEARCE, M

KAPRANOV, N

KLAIN, NC

LENOIR, G

CHAUVEAU, P

LENAERTS, C

RAULT, G

CASHMAN, S

SANGIUOLO, F

AUDREZET, MP

DALLAPICCOLA, B

GUILLERMIT, H

BONDUELLE, M

LIEBAERS, I

QUERE, I

VERLINGUE, C

FEREC, C

机构：

[1] CDTS,CTR BIOGENET,BP 454,F-29275 BREST,FRANCE

[2] IRCCS,CSS HOSP,SAN GIOVANNI,ITALY

[3] CTR HOSP GEN LE HAVRE,UNITE CYTOGENET & GENET MED,LE HAVRE,FRANCE

[4] TOR VERGATA UNIV,ROME,ITALY

[5] UNIV URBINO,I-61029 URBINO,ITALY

[6] INST OBSTET,MOLEC PATHOL LAB,SOFIA,BULGARIA

[7] CTR HELIO MARIN,ROSCOFF,FRANCE

[8] VRIJE UNIV HOSP BRUSSELS,DEPT MED GENET,B-1090 BRUSSELS,BELGIUM

[9] HOP ENFANTS MALAD NECKER,DEPT PEDIAT,PARIS,FRANCE

[10] UNIV DUBLIN TRINITY COLL,DEPT GENET,DUBLIN 2,IRELAND

[11] NRC MED GENET,DEPT CF,MOSCOW 115478,RUSSIA

[12] CTR HOSP REG & UNIV AMIENS,UNITE PEDIAT GENET,AMIENS,FRANCE

[13] UNIV KLIN CTR LJUBLJANA,TOZD UNIV GINEKOL KLIN,LJUBLJANA,SLOVENIA

来源：

GENOMICS | 1993年 / 16卷 / 01期

关键词：

D O I：

10.1006/geno.1993.1183

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：296 / 297

页数：2

共 8 条

[1] DETECTION OF OVER 98-PERCENT CYSTIC-FIBROSIS MUTATIONS IN A CELTIC POPULATION [J].

FEREC, C ;

AUDREZET, MP ;

MERCIER, B ;

GUILLERMIT, H ;

MOULLIER, P ;

QUERE, I ;

VERLINGUE, C .

NATURE GENETICS, 1992, 1 (03) :188-191

[2] 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

[3]

LERMAN LS, 1987, METHOD ENZYMOL, V155, P482

[4]

RIORDAN JR, 1989, SCIENCE, V245, P1066

[5] IDENTIFICATION OF THE CYSTIC-FIBROSIS GENE - CHROMOSOME WALKING AND JUMPING [J].

ROMMENS, JM ;

IANNUZZI, MC ;

KEREM, BS ;

DRUMM, ML ;

MELMER, G ;

DEAN, M ;

ROZMAHEL, R ;

COLE, JL ;

KENNEDY, D ;

HIDAKA, N ;

ZSIGA, M ;

BUCHWALD, M ;

RIORDAN, JR ;

TSUI, LC ;

COLLINS, FS .

SCIENCE, 1989, 245 (4922) :1059-1065

[6] ATTACHMENT OF A 40-BASE-PAIR G+C-RICH SEQUENCE (GC-CLAMP) TO GENOMIC DNA FRAGMENTS BY THE POLYMERASE CHAIN-REACTION RESULTS IN IMPROVED DETECTION OF SINGLE-BASE CHANGES [J].

SHEFFIELD, VC ;

COX, DR ;

LERMAN, LS ;

MYERS, RM .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (01) :232-236

[7]

Tsui Lap-Chee, 1992, Human Mutation, V1, P197, DOI 10.1002/humu.1380010304

[8] GENOMIC DNA-SEQUENCE OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) GENE [J].

ZIELENSKI, J ;

ROZMAHEL, R ;

BOZON, D ;

KEREM, BS ;

GRZELCZAK, Z ;

RIORDAN, JR ;

ROMMENS, J ;

TSUI, LC .

GENOMICS, 1991, 10 (01) :214-228

← 1 →