Development of the multiplex ligation-dependent probe amplification (MLPA) method for identifying large scale mutations in the nebulin gene

被引:0
|
作者
Lunkka-Hytonen, M. [1 ,2 ]
Lehtokari, V. L. [1 ,2 ]
Pelin, K. [3 ]
Brudzewsky, D. [1 ,2 ]
Wallgren-Pettersson, C. [1 ,2 ]
机构
[1] Folkhalsan Inst Genet, Helsinki, Finland
[2] Univ Helsinki, Dept Med Genet, Helsinki, Finland
[3] Univ Helsinki, Dept Biol & Environm Sci, Helsinki, Finland
关键词
D O I
10.1016/j.nmd.2008.06.216
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:787 / 787
页数:1
相关论文
共 50 条
  • [1] Development of the multiplex ligation-dependent probe amplification (MLPA) method for the detection of large deletions in the nebulin gene
    Lehtokari, V. L.
    Pelin, K.
    Nuutinen, E.
    Wallgren-Pettersen, C.
    NEUROMUSCULAR DISORDERS, 2006, 16 (9-10) : 706 - 706
  • [2] Multiplex ligation-dependent probe amplification (MLPA) screening in meningioma
    Martinez-Glez, Victor
    Franco-Hernandez, Carmen
    Lomas, Jesus
    Pena-Granero, Carolina
    de Campos, Jose M.
    Isla, Alberto
    Rey, Juan A.
    CANCER GENETICS AND CYTOGENETICS, 2007, 173 (02) : 170 - 172
  • [3] Multiplex ligation-dependent probe amplification (MLPA) and prenatal diagnosis
    Willis, Alecia S.
    van den Veyver, Ignatia
    Eng, Christine M.
    PRENATAL DIAGNOSIS, 2012, 32 (04) : 315 - 320
  • [4] Analysis of the nebulin gene by multiplex-ligation dependent probe amplification (MLPA) and methylation-specific MLPA
    Lunkka-Hytonen, M.
    Lehtokari, V. L.
    Wallgren-Pettersson, C.
    Pelin, K.
    NEUROMUSCULAR DISORDERS, 2009, 19 (8-9) : 587 - 587
  • [5] Diagnosis of globin gene deletions using multiplex ligation-dependent probe amplification (MLPA)
    So, Jason
    INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, 2008, 30 : 41 - 42
  • [6] Multiplex Ligation-dependent Probe Amplification (MLPA) in Tumor Diagnostics and Prognostics
    Homig-Holzel, Cornelia
    Savola, Suvi
    DIAGNOSTIC MOLECULAR PATHOLOGY, 2012, 21 (04) : 189 - 206
  • [7] Development of a multiplex ligation-dependent probe amplification (MLPA) assay for quantification of the OCRL1 gene
    Coutton, Charles
    Monnier, Nicole
    Rendu, John
    Lunardi, Joel
    CLINICAL BIOCHEMISTRY, 2010, 43 (06) : 609 - 614
  • [8] Improved Detection of Deletions and Duplications in the DMD Gene Using the Multiplex Ligation-Dependent Probe Amplification (MLPA) Method
    Ivona Sansović
    Ingeborg Barišić
    Katja Dumić
    Biochemical Genetics, 2013, 51 : 189 - 201
  • [9] Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA)
    Schirinzi, Annalisa
    Centra, Marta
    Prattichizzo, Clelia
    Gigante, Maddalena
    De Fabritiis, Marco
    Giancaspro, Vincenzo
    Petrarulo, Francesco
    Santacroce, Rossana
    Margaglione, Maurizio
    Gesualdo, Loreto
    Ranieri, Elena
    MOLECULAR GENETICS AND METABOLISM, 2008, 94 (03) : 382 - 385
  • [10] Improved Detection of Deletions and Duplications in the DMD Gene Using the Multiplex Ligation-Dependent Probe Amplification (MLPA) Method
    Sansovic, Ivona
    Barisic, Ingeborg
    Dumic, Katja
    BIOCHEMICAL GENETICS, 2013, 51 (3-4) : 189 - 201