IDENTIFICATION OF A NEW MISSENSE MUTATION AT ARG403, A CPG MUTATION HOTSPOT, IN EXON-13 OF THE BETA-MYOSIN HEAVY-CHAIN GENE IN HYPERTROPHIC CARDIOMYOPATHY

被引:26
作者
MOOLMAN, JC
BRINK, PA
CORFIELD, VA
机构
[1] UNIV STELLENBOSCH,MRC,CTR MOLEC & CELLULAR BIOL,DEPT MED PHYSIOL & BIOCHEM,POB 19063,TYGERBERG 7505,SOUTH AFRICA
[2] TYGERBERG HOSP,TYGERBERG 7505,SOUTH AFRICA
[3] UNIV STELLENBOSCH,SCH MED,DEPT INTERNAL MED,TYGERBERG 7505,SOUTH AFRICA
关键词
D O I
10.1093/hmg/2.10.1731
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
[No abstract available]
引用
收藏
页码:1731 / 1732
页数:2
相关论文
共 8 条
  • [1] MOLECULAR-BASIS OF BASE SUBSTITUTION HOTSPOTS IN ESCHERICHIA-COLI
    COULONDRE, C
    MILLER, JH
    FARABAUGH, PJ
    GILBERT, W
    [J]. NATURE, 1978, 274 (5673) : 775 - 780
  • [2] DIFFERENCES IN CLINICAL EXPRESSION OF HYPERTROPHIC CARDIOMYOPATHY ASSOCIATED WITH 2 DISTINCT MUTATIONS IN THE BETA-MYOSIN HEAVY-CHAIN GENE - A 908LEU-]VAL MUTATION AND A 403ARG-]GLN MUTATION
    EPSTEIN, ND
    COHN, GM
    CYRAN, F
    FANANAPAZIR, L
    [J]. CIRCULATION, 1992, 86 (02) : 345 - 352
  • [3] MISSENSE MUTATIONS IN THE BETA-MYOSIN HEAVY-CHAIN GENE CAUSE CENTRAL CORE DISEASE IN HYPERTROPHIC CARDIOMYOPATHY
    FANANAPAZIR, L
    DALAKAS, MC
    CYRAN, F
    COHN, G
    EPSTEIN, ND
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1993, 90 (09) : 3993 - 3997
  • [4] A MOLECULAR-BASIS FOR FAMILIAL HYPERTROPHIC CARDIOMYOPATHY - A BETA-CARDIAC MYOSIN HEAVY-CHAIN GENE MISSENSE MUTATION
    GEISTERFERLOWRANCE, AAT
    KASS, S
    TANIGAWA, G
    VOSBERG, HP
    MCKENNA, W
    SEIDMAN, CE
    SEIDMAN, JG
    [J]. CELL, 1990, 62 (05) : 999 - 1006
  • [5] THE COMPLETE SEQUENCE OF THE HUMAN BETA-MYOSIN HEAVY-CHAIN GENE AND A COMPARATIVE-ANALYSIS OF ITS PRODUCT
    JAENICKE, T
    DIEDERICH, KW
    HAAS, W
    SCHLEICH, J
    LICHTER, P
    PFORDT, M
    BACH, A
    VOSBERG, HP
    [J]. GENOMICS, 1990, 8 (02) : 194 - 206
  • [6] HYPERTROPHIC CARDIOMYOPATHY - INTERRELATIONS OF CLINICAL MANIFESTATIONS, PATHOPHYSIOLOGY, AND THERAPY .1.
    MARON, BJ
    BONOW, RO
    CANNON, RO
    LEON, MB
    EPSTEIN, SE
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1987, 316 (13) : 780 - 789
  • [7] MOOLMAN JC, 1993, IN PRESS CARDIOVASC
  • [8] CHARACTERISTICS AND PROGNOSTIC IMPLICATIONS OF MYOSIN MISSENSE MUTATIONS IN FAMILIAL HYPERTROPHIC CARDIOMYOPATHY
    WATKINS, H
    ROSENZWEIG, A
    HWANG, DS
    LEVI, T
    MCKENNA, W
    SEIDMAN, CE
    SEIDMAN, JG
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1992, 326 (17) : 1108 - 1114