IN FRAME DELETION (DELTA-F311) WITHIN A SHORT TRINUCLEOTIDE REPEAT OF THE FIRST TRANSMEMBRANE REGION OF THE CYSTIC-FIBROSIS GENE

被引：5

作者：

MEITINGER, T

GOLLA, A

DORNER, G

DEUFEL, A

AULEHLASCHOLZ, C

BOHM, I

REINHARDT, D

DEUFEL, T

机构：

[1] UNIV MUNICH,KINDERPOLIKLIN,PADIATR GENET ABT,D-80336 MUNICH,GERMANY

[2] FRAUENKLIN BERG,MED GENET ABT,STUTTGART,GERMANY

[3] LAB DR WALDENMAIER,MUNICH,GERMANY

[4] UNIV MUNICH,DR VON HAUNERSCHEN KINDERSPITAL,KLIN CHEM & BIOCHEM ABT,MUNICH,GERMANY

来源：

HUMAN MOLECULAR GENETICS | 1993年 / 2卷 / 12期

关键词：

D O I：

10.1093/hmg/2.12.2173

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：2173 / 2174

页数：2

共 8 条

[1] CYSTIC-FIBROSIS - MOLECULAR-BIOLOGY AND THERAPEUTIC IMPLICATIONS [J].

COLLINS, FS .

SCIENCE, 1992, 256 (5058) :774-779

[2] A 22-BP DELETION IN THE CODING REGION OF THE CYSTIC-FIBROSIS GENE [J].

DEAN, M ;

WHITE, MB ;

GERRARD, B ;

MILUNSKY, A ;

AMOS, J .

GENOMICS, 1992, 13 (01) :235-236

[3] 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

[4] IDENTIFICATION OF MUTATIONS IN REGIONS CORRESPONDING TO THE 2 PUTATIVE NUCLEOTIDE (ATP)-BINDING FOLDS OF THE CYSTIC-FIBROSIS GENE [J].

KEREM, BS ;

ZIELENSKI, J ;

MARKIEWICZ, D ;

BOZON, D ;

GAZIT, E ;

YAHAV, J ;

KENNEDY, D ;

RIORDAN, JR ;

COLLINS, FS ;

ROMMENS, JM ;

TSUI, LC .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1990, 87 (21) :8447-8451

[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]

KRAWCZAK M, 1991, HUM GENET, V86, P425

[7] DETECTION OF SMALL RB1 GENE DELETIONS IN RETINOBLASTOMA BY MULTIPLEX PCR AND HIGH-RESOLUTION GEL-ELECTROPHORESIS [J].

LOHMANN, D ;

HORSTHEMKE, B ;

GILLESSENKAESBACH, G ;

STEFANI, FH ;

HOFLER, H .

HUMAN GENETICS, 1992, 89 (01) :49-53

[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

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