HUNTERS DISEASE IN A GIRL - ASSOCIATION WITH X-5 CHROMOSOMAL TRANSLOCATION DISRUPTING THE HUNTER GENE

被引:66
作者
MOSSMAN, J
BLUNT, S
STEPHENS, R
JONES, EE
PEMBREY, M
机构
[1] INST CHILD HLTH,MOTHERCARE UNIT PAEDIAT GENET,30 GUILFORD ST,LONDON WC1N 1EH,ENGLAND
[2] INST CHILD HLTH,DEPT CLIN BIOCHEM,LONDON WC1N 1EH,ENGLAND
[3] GUYS HOSP,SCH MED,PAEDIAT RES UNIT,LONDON SE1 9RT,ENGLAND
[4] HOSP SICK CHILDREN,LONDON WC1N 3JH,ENGLAND
[5] HOSP ST CROSS,DEPT PAEDIAT,RUGBY,ENGLAND
关键词
D O I
10.1136/adc.58.11.911
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:911 / 915
页数:5
相关论文
共 8 条
  • [1] CARRIER DETECTION IN HUNTER SYNDROME
    ARCHER, IM
    YOUNG, ID
    REES, DW
    OLADIMEJI, A
    WUSTEMAN, FS
    HARPER, PS
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1983, 16 (01): : 61 - 69
  • [3] X-AUTOSOME TRANSLOCATION IN A GIRL WITH DUCHENNE MUSCULAR-DYSTROPHY (DMD) - EVIDENCE FOR DMD GENE LOCALIZATION
    GREENSTEIN, RM
    REARDON, MP
    CHAN, TS
    [J]. PEDIATRIC RESEARCH, 1977, 11 (04) : 457 - 457
  • [4] McKusick V.A., 1978, MENDELIAN INHERITANC
  • [5] LINKAGE RELATIONSHIP OF A CLONED DNA-SEQUENCE ON THE SHORT ARM OF THE X-CHROMOSOME TO DUCHENNE MUSCULAR-DYSTROPHY
    MURRAY, JM
    DAVIES, KE
    HARPER, PS
    MEREDITH, L
    MUELLER, CR
    WILLIAMSON, R
    [J]. NATURE, 1982, 300 (5887) : 69 - 71
  • [6] NEUFELD EF, 1977, AM J HUM GENET, V29, P455
  • [7] THERMAN E, 1974, HUMANGENETIK, V25, P1
  • [8] TRANSLOCATION (X-6) IN A FEMALE WITH DUCHENNE MUSCULAR-DYSTROPHY - IMPLICATIONS FOR THE LOCALIZATION OF THE DMD LOCUS
    ZATZ, M
    VIANNAMORGANTE, AM
    CAMPOS, P
    DIAMENT, AJ
    [J]. JOURNAL OF MEDICAL GENETICS, 1981, 18 (06) : 442 - 447