A NOVEL MUTATION (M1V) IN THE TRANSLATION INITIATION CODON OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE, IN 3 CF CHROMOSOMES OF ITALIAN ORIGIN

被引：10

作者：

CHEADLE, JP

BELLONI, E

FERRARI, M

MILLARJONES, L

MEREDITH, AL

机构：

[1] UNIV WALES COLL MED,DEPT CHILD HLTH,CF UNIT,CARDIFF CF4 4XN,WALES

[2] IST SCI SAN RAFFAELE,BIOL MOLEC APPLICATA LAB,I-20132 MILAN,ITALY

来源：

HUMAN MOLECULAR GENETICS | 1994年 / 3卷 / 08期

关键词：

D O I：

10.1093/hmg/3.8.1431

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

引用

页码：1431 / 1432

页数：2

共 10 条

[1] DIRECT SEQUENCING OF THE COMPLETE CFTR GENE - THE MOLECULAR CHARACTERIZATION OF 99.5-PERCENT OF CF CHROMOSOMES IN WALES [J].

CHEADLE, JP ;

GOODCHILD, MC ;

MEREDITH, AL .

HUMAN MOLECULAR GENETICS, 1993, 2 (10) :1551-1556

[2] ANALYSIS OF THE 27 EXONS AND FLANKING REGIONS OF THE CYSTIC-FIBROSIS GENE - 40 DIFFERENT MUTATIONS ACCOUNT FOR 91.2-PERCENT OF THE MUTANT ALLELES IN SOUTHERN FRANCE [J].

CLAUSTRES, M ;

LAUSSEL, M ;

DESGEORGES, M ;

GIANSILY, M ;

CULARD, JF ;

RAZAKATSARA, G ;

DEMAILLE, J .

HUMAN MOLECULAR GENETICS, 1993, 2 (08) :1209-1213

[3] 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

[4] CA/GT MICROSATELLITE ALLELES WITHIN THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) GENE ARE NOT GENERATED BY UNEQUAL CROSSINGOVER [J].

MORRAL, N ;

NUNES, V ;

CASALS, T ;

ESTIVILL, X .

GENOMICS, 1991, 10 (03) :692-698

[5]

RIORDAN JR, 1989, SCIENCE, V245, P1066

[6] 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

[7] AUG IS THE ONLY INITIATION CODON IN EUKARYOTES [J].

SHERMAN, F ;

MCKNIGHT, G ;

STEWART, JW .

BIOCHIMICA ET BIOPHYSICA ACTA, 1980, 609 (02) :343-346

[8]

STEWART JW, 1971, J BIOL CHEM, V246, P7429

[9]

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

[10]

ZIELENSKI J, 1991, AM J HUM GENET, V49, P1256

← 1 →