A NEW MISSENSE MUTATION, ARG719GLN, IN THE BETA-CARDIAC HEAVY-CHAIN MYOSIN GENE OF PATIENTS WITH FAMILIAL HYPERTROPHIC CARDIOMYOPATHY

被引:49
作者
CONSEVAGE, MW
SALADA, GC
BAYLEN, BG
LADDA, RL
ROGAN, PK
机构
关键词
D O I
10.1093/hmg/3.6.1025
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
收藏
页码:1025 / 1026
页数:2
相关论文
共 19 条
  • [1] PROGNOSTIC IMPLICATIONS OF NOVEL BETA-CARDIAC MYOSIN HEAVY-CHAIN GENE-MUTATIONS THAT CAUSE FAMILIAL HYPERTROPHIC CARDIOMYOPATHY
    ANAN, R
    GREVE, G
    THIERFELDER, L
    WATKINS, H
    MCKENNA, WJ
    SOLOMON, S
    VECCHIO, C
    SHONO, H
    NAKAO, S
    TANAKA, H
    MARES, A
    TOWBIN, JA
    SPIRITO, P
    ROBERTS, R
    SEIDMAN, JG
    SEIDMAN, CE
    [J]. JOURNAL OF CLINICAL INVESTIGATION, 1994, 93 (01) : 280 - 285
  • [2] MAPPING OF A NOVEL GENE FOR FAMILIAL HYPERTROPHIC CARDIOMYOPATHY TO CHROMOSOME-11
    CARRIER, L
    HENGSTENBERG, C
    BECKMANN, JS
    GUICHENEY, P
    DUFOUR, C
    BERCOVICI, J
    DAUSSE, E
    BEREBBIBERTRAND, I
    WISNEWSKY, C
    PULVENIS, D
    FETLER, L
    VIGNAL, A
    WEISSENBACH, J
    HILLAIRE, D
    FEINGOLD, J
    BOUHOUR, JB
    HAGEGE, A
    DESNOS, M
    ISNARD, R
    DUBOURG, O
    KOMAJDA, M
    SCHWARTZ, K
    [J]. NATURE GENETICS, 1993, 4 (03) : 311 - 313
  • [3] FAMILIAL HYPERTROPHIC CARDIOMYOPATHY - MICROSATELLITE HAPLOTYPING AND IDENTIFICATION OF A HOT-SPOT FOR MUTATIONS IN THE BETA-MYOSIN HEAVY-CHAIN GENE
    DAUSSE, E
    KOMAJDA, M
    FETLER, L
    DUBOURG, O
    DUFOUR, C
    CARRIER, L
    WISNEWSKY, C
    BERCOVICI, J
    HENGSTENBERG, C
    ALMAHDAWI, S
    ISNARD, R
    HAGEGE, A
    BOUHOUR, JB
    DESNOS, M
    BECKMANN, J
    WEISSENBACH, J
    SCHWARTZ, K
    GUICHENEY, P
    [J]. JOURNAL OF CLINICAL INVESTIGATION, 1993, 92 (06) : 2807 - 2813
  • [4] 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
  • [5] GENOTYPE-PHENOTYPE CORRELATIONS IN HYPERTROPHIC CARDIOMYOPATHY - INSIGHTS PROVIDED BY COMPARISONS OF KINDREDS WITH DISTINCT AND IDENTICAL BETA-MYOSIN HEAVY-CHAIN GENE-MUTATIONS
    FANANAPAZIR, L
    EPSTEIN, ND
    [J]. CIRCULATION, 1994, 89 (01) : 22 - 32
  • [6] DINUCLEOTIDE REPEAT POLYMORPHISM AT THE HUMAN GENE FOR CARDIAC BETA-MYOSIN HEAVY-CHAIN (MYH6)
    FOUGEROUSSE, F
    DUFOUR, C
    ROUDAUT, C
    BECKMANN, JS
    [J]. HUMAN MOLECULAR GENETICS, 1992, 1 (01) : 64 - 64
  • [7] GREVE G, 1993, CIRCULATION, V88, P573
  • [8] DINUCLEOTIDE REPEAT POLYMORPHISM AT THE T-CELL RECEPTOR DELTA LOCUS (TCRD)
    JORDAN, SA
    MCWILLIAM, P
    OBRIAIN, DS
    HUMPHRIES, P
    [J]. NUCLEIC ACIDS RESEARCH, 1991, 19 (08) : 1959 - 1959
  • [9] 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
  • [10] 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
    MOOLMAN, JC
    BRINK, PA
    CORFIELD, VA
    [J]. HUMAN MOLECULAR GENETICS, 1993, 2 (10) : 1731 - 1732