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
来源：
NEUROMUSCULAR DISORDERS | 2008年 / 18卷 / 9-10期
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
  • [21] MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION (MLPA) ANALYSIS IN HEREDITARY FRUCTOSE INTOLERANCE (HFI)
    Santer, L.
    Steglich, C.
    Bergmann, J.
    Tsiakas, K.
    Schneppenheim, R.
    Santer, R.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2012, 35 : S82 - S82
  • [22] CHARACTERIZATION OF ALPHA-THALASSEMIC GENOTYPES BY MLPA (MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION)
    Sonati, M. F.
    Suemasu, C.
    Kimura, E.
    Oliveira, D.
    Bezerra, M.
    Costa, F.
    HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2010, 95 : 421 - 421
  • [23] Detection of genetic aberrations in CLL using multiplex ligation-dependent probe amplification (MLPA)
    Rani, Lata
    Dahiya, Meetu
    Mathur, Nitin
    Gupta, Ritu
    Gogia, Ajay
    Kumar, Lalit
    Sharma, Atul
    LEUKEMIA & LYMPHOMA, 2017, 58 : 176 - 177
  • [24] Multiplex ligation-dependent probe amplification (MLPA): a reliable alternative for fetal chromosome analysis?
    Chitty, Lyn S.
    Kistler, James
    Akolekar, Ranjit
    Liddle, Stuart
    Nicolaides, Kypros
    Levett, Lisa
    JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE, 2012, 25 (08): : 1383 - 1386
  • [25] Precise Subtyping of Beta Globin Gene Complex Deletions Using Multiplex Ligation-dependent Probe Amplification (MLPA)
    Hein, M. S.
    Swanson, K. C.
    Lundquist, P.
    Coon, L.
    Dawson, D.
    Oliveira, J. L.
    Hoyer, J. D.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2016, 18 (06): : 959 - 959
  • [26] Added value of HER-2 amplification testing by multiplex ligation-dependent probe amplification (MLPA)
    van Slooten, H-J
    Kuijpers, C. C.
    Moelans, C. B.
    Horstman, A.
    Al-Janabi, S.
    Hinrichs, J. W.
    van Diest, P. J.
    Jiwa, M.
    CANCER RESEARCH, 2012, 72
  • [27] Use of multiplex ligation-dependent probe amplification (MLPA) for Duchenne muscular dystrophy (DMD) gene mutation analysis
    Murugan, Sakthivel S. M.
    Chandramohan, Arthi
    Lakshmi, Bremadesam Raman
    INDIAN JOURNAL OF MEDICAL RESEARCH, 2010, 132 (03) : 303 - 311
  • [28] Identification of VWF gene deletions in nine VWD families using multiplex ligation-dependent probe amplification (MLPA)
    Theophilus, B. D.
    Baugh, M. L.
    Guilliatt, A. M.
    Wilde, T.
    Motwani, J.
    Williams, M. D.
    JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2013, 11 : 311 - 311
  • [29] APPLICATION OF MLPA (MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION) IN FETUSES WITH AN ABNORMAL SONOGRAM AND NORMAL KARYOTYPE
    Toksoy, Guven
    Karaman, Birsen
    Uyguner, Zehra Oya
    Yilmaz, Kader
    Has, Recep
    Kayserili, Hulya
    Miny, Peter
    Basaran, Seher
    JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI, 2019, 82 (01): : 5 - 11
  • [30] Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients
    Erlandson, A
    Samuelsson, L
    Hagberg, B
    Kyllerman, M
    Vujic, M
    Wahlström, J
    GENETIC TESTING, 2003, 7 (04): : 329 - 332
12345