Characterization and Distribution of Dystrophin Gene Mutations Observed in Patients Suspected of Duchenne Muscular Dystrophy in Pakistan

被引：0
|
作者：
Ahmed, Z. [1 ]
Nasir, A. [1 ]
机构：
[1] Aga Khan Univ, Pathol & Lab Med, Karachi, Pakistan
来源：
JOURNAL OF MOLECULAR DIAGNOSTICS | 2019年 / 21卷 / 03期
关键词：
D O I：
暂无
中图分类号：
R36 [病理学];
学科分类号：
100104 ;
摘要：
P012
引用
收藏
页码：S21 / S21
页数：1
相关论文
共 50 条
  • [31] Small mutations and polymorphisms in the dystrophin coding region in Japanese patients with Duchenne muscular dystrophy.
    Kawamura, J
    Ishihara, T
    Kato, S
    Yatabe, K
    Shigeyama, T
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A303 - A303
  • [32] Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy
    Frank, Diane E.
    Schnell, Frederick J.
    Akana, Cody
    El-Husayni, Saleh H.
    Desjardins, Cody A.
    Morgan, Jennifer
    Charleston, Jay S.
    Sardone, Valentina
    Domingos, Joana
    Dickson, George
    Straub, Volker
    Guglieri, Michela
    Mercuri, Eugenio
    Servais, Laurent
    Muntoni, Francesco
    NEUROLOGY, 2020, 94 (21) : E2270 - E2282
  • [33] A CASE OF DUCHENNE MUSCULAR-DYSTROPHY WITH NONCONTIGUOUS PARTIAL DELETION AND PARTIAL DUPLICATION MUTATIONS IN DYSTROPHIN GENE
    KAWAMURA, J
    ISHIHARA, T
    KAWASHIRO, T
    KATO, S
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 516 - 516
  • [34] MLPA based detection of mutations in the dystrophin gene of 180 Polish families with Duchenne/Becker muscular dystrophy
    Zimowski, Janusz G.
    Massalska, Diana
    Holding, Mariola
    Jadczak, Sylwia
    Fidzianska, Elzbieta
    Lusakowska, Anna
    Kostera-Pruszczyk, Anna
    Kaminska, Anna
    Zaremba, Jacek
    NEUROLOGIA I NEUROCHIRURGIA POLSKA, 2014, 48 (06) : 416 - 422
  • [35] Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations
    De-Ann M. Pillers
    K.M. Fitzgerald
    N.M. Duncan
    S.M. Rash
    R.A. White
    S.J. Dwinnell
    B.R. Powell
    R.E. Schnur
    P.N. Ray
    G.W. Cibis
    R.G. Weleber
    Human Genetics, 1999, 105 : 2 - 9
  • [36] Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations
    Pillers, DAH
    Fitzgerald, KM
    Duncan, NM
    Rash, SM
    White, RA
    Dwinnell, SJ
    Powell, BR
    Schnur, RE
    Ray, PN
    Cibis, GW
    Weleber, RG
    HUMAN GENETICS, 1999, 105 (1-2) : 2 - 9
  • [37] Re-engineering dystrophin for gene therapy of Duchenne muscular dystrophy
    van Raamsdonk, J
    CLINICAL GENETICS, 2002, 62 (01) : 25 - 27
  • [38] Immune responses to dystrophin: implications for gene therapy of Duchenne muscular dystrophy
    A Ferrer
    K E Wells
    D J Wells
    Gene Therapy, 2000, 7 : 1439 - 1446
  • [39] Intellectual ability in Duchenne muscular dystrophy and dystrophin gene mutation location
    Vojinovic, D.
    Pesovic, J.
    Pavicevic, D. Savic
    Rasic, V. Milic
    Mijalkovic, G.
    Lukic, V.
    Mladenovic, J.
    Maksimovic, N.
    Todorovic, S.
    EUROPEAN JOURNAL OF NEUROLOGY, 2014, 21 : 255 - 255
  • [40] Is dystrophin immunogenicity a barrier to advancing gene therapy for Duchenne muscular dystrophy?
    Gorecki, Dariusz C.
    Kalinski, Pawel
    Pomeroy, Joanna
    GENE THERAPY, 2025,
12345