A RECURRENT 14-BP DELETION IN THE CLCN1 GENE ASSOCIATED WITH GENERALIZED MYOTONIA (BECKER)

被引：29

作者：

MEYERKLEINE, C

RICKER, K

OTTO, M

KOCH, MC

机构：

[1] UNIV MARBURG,MED ZENTRUM HUMANGENET,D-35037 MARBURG,GERMANY

[2] UNIV WURZBURG,NEUROL KLIN,D-97080 WURZBURG,GERMANY

来源：

HUMAN MOLECULAR GENETICS | 1994年 / 3卷 / 06期

关键词：

D O I：

10.1093/hmg/3.6.1015

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：1015 / 1016

页数：2

共 16 条

[1]

ABDALLA JA, 1992, AM J HUM GENET, V51, P579

[2] ON THE FORMATION OF SPONTANEOUS DELETIONS - THE IMPORTANCE OF SHORT SEQUENCE HOMOLOGIES IN THE GENERATION OF LARGE DELETIONS [J].

ALBERTINI, AM ;

HOFER, M ;

CALOS, MP ;

MILLER, JH .

CELL, 1982, 29 (02) :319-328

[3]

Becker PE, 1977, TOPICS HUMAN GENETIC

[4] A COMPREHENSIVE SET OF SEQUENCE-ANALYSIS PROGRAMS FOR THE VAX [J].

DEVEREUX, J ;

HAEBERLI, P ;

SMITHIES, O .

NUCLEIC ACIDS RESEARCH, 1984, 12 (01) :387-395

[5] THE STRUCTURE AND EVOLUTION OF THE HUMAN BETA-GLOBIN GENE FAMILY [J].

EFSTRATIADIS, A ;

POSAKONY, JW ;

MANIATIS, T ;

LAWN, RM ;

OCONNELL, C ;

SPRITZ, RA ;

DERIEL, JK ;

FORGET, BG ;

WEISSMAN, SM ;

SLIGHTOM, JL ;

BLECHL, AE ;

SMITHIES, O ;

BARALLE, FE ;

SHOULDERS, CC ;

PROUDFOOT, NJ .

CELL, 1980, 21 (03) :653-668

[6] MOLECULAR-BASIS OF THOMSEN DISEASE (AUTOSOMAL DOMINANT MYOTONIA-CONGENITA) [J].

GEORGE, AL ;

CRACKOWER, MA ;

ABDALLA, JA ;

HUDSON, AJ ;

EBERS, GC .

NATURE GENETICS, 1993, 3 (04) :305-310

[7] STRUCTURAL INTERMEDIATES OF DELETION MUTAGENESIS - A ROLE FOR PALINDROMIC DNA [J].

GLICKMAN, BW ;

RIPLEY, LS .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1984, 81 (02) :512-516

[8] EVIDENCE FOR GENETIC HOMOGENEITY IN AUTOSOMAL RECESSIVE GENERALIZED MYOTONIA (BECKER) [J].

KOCH, MC ;

RICKER, K ;

OTTO, M ;

WOLF, F ;

ZOLL, B ;

LORENZ, C ;

STEINMEYER, K ;

JENTSCH, TJ .

JOURNAL OF MEDICAL GENETICS, 1993, 30 (11) :914-917

[9] THE SKELETAL-MUSCLE CHLORIDE CHANNEL IN DOMINANT AND RECESSIVE HUMAN MYOTONIA [J].

KOCH, MC ;

STEINMEYER, K ;

LORENZ, C ;

RICKER, K ;

WOLF, F ;

OTTO, M ;

ZOLL, B ;

LEHMANNHORN, F ;

GRZESCHIK, KH ;

JENTSCH, TJ .

SCIENCE, 1992, 257 (5071) :797-800

[10]

KRAWCZAK M, 1991, HUM GENET, V86, P425

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