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
  • [31] Comparative analysis of PCR-deletion detection and immunohistochemistry in Brazilian Duchenne and Becker muscular dystrophy patients
    Werneck, LC
    Scola, RH
    Maegawa, GHB
    Werneck, MCM
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 103 (02): : 115 - 120
  • [32] High frequency of nonsense mutations in Russian patients with Duchenne muscular dystrophy
    Zinina, Elena
    Bulakh, Maria
    Chukhrova, Alena
    Shchagina, Olga
    Polyakov, Aleksander
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 215 - 215
  • [33] DMD mutations in pediatric patients with phenotypes of Duchenne/Becker muscular dystrophy
    Ge, Liping
    Yang, Yang
    Yang, Yanfei
    Chen, Yanfei
    Tao, Na
    Zhang, Liping
    Zhao, Canmiao
    Zhang, Xing
    OPEN MEDICINE, 2024, 19 (01):
  • [34] THE IDENTIFICATION OF POINT MUTATIONS IN DUCHENNE MUSCULAR-DYSTROPHY PATIENTS BY USING REVERSE-TRANSCRIPTION PCR AND THE PROTEIN TRUNCATION TEST
    GARDNER, RJ
    BOBROW, M
    ROBERTS, RG
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (02) : 311 - 320
  • [35] DNA STUDIES IN A FAMILY WITH DUCHENNE MUSCULAR-DYSTROPHY AND A DELETION AT XP21
    GREENBERG, CR
    HAMERTON, JL
    NIGLI, M
    WROGEMANN, K
    AMERICAN JOURNAL OF HUMAN GENETICS, 1987, 41 (02) : 128 - 137
  • [36] DELETION SCREENING OF THE DUCHENNE MUSCULAR-DYSTROPHY LOCUS VIA MULTIPLEX DNA AMPLIFICATION
    CHAMBERLAIN, JS
    GIBBS, RA
    RANIER, JE
    NGUYEN, PN
    CASKEY, CT
    NUCLEIC ACIDS RESEARCH, 1988, 16 (23) : 11141 - 11156
  • [37] CARRIER DETECTION BY DNA ANALYSIS IN DUCHENNE MUSCULAR-DYSTROPHY FAMILIES
    BATTALOGLU, E
    TELATAR, M
    DEYMEER, F
    SERDAROGLU, P
    OZDEMIR, C
    KUSEYRI, F
    APAK, MY
    TOLUN, A
    TURKISH JOURNAL OF PEDIATRICS, 1992, 34 (02) : 79 - 92
  • [38] THE ASSOCIATION OF DNA DELETION SITE AND COGNITIVE-ABILITIES IN DUCHENNE MUSCULAR-DYSTROPHY
    SHAPIRO, EG
    SMITH, S
    BEST, K
    DEMARTINVILLE, B
    JOURNAL OF CLINICAL AND EXPERIMENTAL NEUROPSYCHOLOGY, 1991, 13 (01) : 79 - 79
  • [39] Deletion analysis of the dystrophin gene in patients with Duchenne's muscular dystrophy in Tajikistan
    Odinokova, ON
    Puzyrev, VP
    Radzhabaliev, SF
    Rakhmonov, RA
    GENETIKA, 1996, 32 (10): : 1392 - 1395
  • [40] PATTERN OF GENE DELETION, BREAKPOINT ANALYSIS AND GERMLINE MUTATIONS IN DUCHENNE/BECKER MUSCULAR-DYSTROPHY
    MITTAL, B
    SINGH, V
    MISHRA, S
    SINHA, S
    MITTAL, RD
    PRADHAN, S
    AGARWAL, SS
    GANDHI, S
    MOLECULAR BIOLOGY OF THE CELL, 1995, 6 : 2209 - 2209