Detection of novel point mutations in non-deletion patients with Duchenne muscular dystrophy using DNA sequencing

被引:0
|
作者
Pillay, KD [1 ]
Bill, PLA [1 ]
机构
[1] Nelson R Mandela Sch Med, Dept Neurol, Durban, South Africa
来源
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
015
引用
收藏
页码:1168 / 1169
页数:2
相关论文
共 50 条
  • [1] Preimplantation diagnosis of non-deletion Duchenne muscular dystrophy (DMD) by linkage polymerase chain reaction analysis
    Lee, SH
    Kwak, IP
    Cha, KE
    Park, SE
    Kim, NK
    Cha, KY
    MOLECULAR HUMAN REPRODUCTION, 1998, 4 (04) : 345 - 349
  • [2] Deletion mutations in the dystrophin gene of Saudi patients with Duchenne and Becker muscular dystrophy
    Al-Jumah, M
    Majumdar, R
    Al-Rajeh, S
    Chaves-Carballo, E
    Salih, MM
    Awada, A
    Al-Shahwan, S
    Al-Uthaim, S
    SAUDI MEDICAL JOURNAL, 2002, 23 (12) : 1478 - 1482
  • [3] THE DETECTION OF CARRIERS IN RELATIVES OF DUCHENNE MUSCULAR-DYSTROPHY MALES WITH A DNA DELETION
    JANES, S
    SCHWEIG, E
    AMOS, J
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1986, 25 (04): : 744 - 745
  • [4] DELETION SCREENING IN PATIENTS WITH DUCHENNE MUSCULAR-DYSTROPHY
    WULFF, K
    HERRMANN, FH
    WAPENAAR, MC
    WEHNERT, M
    JOURNAL OF NEUROLOGY, 1989, 236 (08) : 470 - 473
  • [5] DNA DELETION IN A PAKISTANI FAMILY WITH DUCHENNE MUSCULAR-DYSTROPHY
    SIDDIQUE, T
    AHMAD, A
    KOH, J
    FATIMA, Z
    HAREKAR, A
    KUNKEL, LM
    WORTON, RG
    HUNG, WY
    PERICAKVANCE, MA
    BARTLETT, RJ
    ROSES, AD
    ANNALS OF NEUROLOGY, 1987, 22 (01) : 127 - 127
  • [6] DNA DELETION SCREENING IN DUCHENNE AND BECKER MUSCULAR-DYSTROPHY
    HART, KA
    WALKER, A
    COLE, CG
    HODGSON, SV
    JOHNSON, L
    DUBOWITZ, V
    BOBROW, M
    JOURNAL OF MEDICAL GENETICS, 1987, 24 (04) : 243 - 244
  • [7] DETECTION OF GENE DELETION IN PATIENTS OF DUCHENNE MUSCULAR-DYSTROPHY BECKER MUSCULAR-DYSTROPHY USING POLYMERASE CHAIN-REACTION
    SINHA, S
    PRADHAN, S
    MITTAL, RD
    MITTAL, B
    INDIAN JOURNAL OF MEDICAL RESEARCH SECTION B-BIOMEDICAL RESEARCH OTHER THAN INFECTIOUS DISEASES, 1992, 96 : 297 - 301
  • [8] Deletion and duplication mutations spectrum in Duchenne muscular dystrophy in the southwest of Iran
    Shariati, Gholamreza
    Shakerian, Siavash
    Anaie, Marzieh Mohammadi
    Abdorasouli, Nehzat
    Nanvazadeh, Fateme
    Sedaghat, Alireza
    Sedighi, Mostafa
    Saberi, Alihossein
    META GENE, 2020, 23
  • [9] Deletion & duplication mutations in Duchenne muscular dystrophy in southern Iranian children
    Saberi, A.
    Shariati, G.
    Anaei, M. Mohammadi
    Abdorasouli, N.
    Nanvazed, F.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 323 - 324
  • [10] Detection of deletions in the Duchenne muscular dystrophy gene using DNA microarrays
    Hardy, C
    Griffiths, MJ
    Dyer, SA
    Ince, LJ
    Davison, EV
    JOURNAL OF MEDICAL GENETICS, 1999, 36 : S86 - S86