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Volumn 12, Issue 1, 2010, Pages 65-73

One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography

Author keywords

[No Author keywords available]

Indexed keywords

DNA; DYSTROPHIN;

EID: 77349089978     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2010.090074     Document Type: Article
Times cited : (17)

References (18)
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    • Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading-frame rule
    • Aartsma-Rus A, Van Deutekom JC, Fokkema IF, Van Ommen GJ, Den Dunnen JT: Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. Muscle Nerve 2006, 34:135-144
    • (2006) Muscle Nerve , vol.34 , pp. 135-144
    • Aartsma-Rus, A.1    Van Deutekom, J.C.2    Fokkema, I.F.3    Van Ommen, G.J.4    Den Dunnen, J.T.5
  • 3
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    • Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method
    • Schwartz M, Duno M: Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method. Genet Test 2004, 8:361-367
    • (2004) Genet Test , vol.8 , pp. 361-367
    • Schwartz, M.1    Duno, M.2
  • 4
    • 44849138465 scopus 로고    scopus 로고
    • Log-PCR: A new tool for immediate and cost-effective diagnosis of up to 85% of dystrophin gene mutations
    • Trimarco A, Torella A, Piluso G, Maria Ventriglia V, Politano L, Nigro V: Log-PCR: a new tool for immediate and cost-effective diagnosis of up to 85% of dystrophin gene mutations. Clin Chem 2008, 54:973-981
    • (2008) Clin Chem , vol.54 , pp. 973-981
    • Trimarco, A.1    Torella, A.2    Piluso, G.3    Maria Ventriglia, V.4    Politano, L.5    Nigro, V.6
  • 6
    • 0033498874 scopus 로고    scopus 로고
    • Dystrophin gene scanning by DHPLC of DMD carriers without deletions or duplications
    • Belsito A, Politano L, Piluso G, Comi LI, Nigro V: Dystrophin gene scanning by DHPLC of DMD carriers without deletions or duplications. Acta Myol 1999, 3:221-223
    • (1999) Acta Myol , vol.3 , pp. 221-223
    • Belsito, A.1    Politano, L.2    Piluso, G.3    Comi, L.I.4    Nigro, V.5
  • 7
    • 2942523954 scopus 로고    scopus 로고
    • Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing
    • Bennett RR, den Dunnen J, O'Brien KF, Darras BT, Kunkel LM: Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing. BMC Genet 2001, 2:17
    • (2001) BMC Genet , vol.2 , pp. 17
    • Bennett, R.R.1    den Dunnen, J.2    O'Brien, K.F.3    Darras, B.T.4    Kunkel, L.M.5
  • 11
    • 33747502470 scopus 로고    scopus 로고
    • Readthrough strategies for stop codons in Duchenne muscular dystrophy
    • Aurino S, Nigro V: Readthrough strategies for stop codons in Duchenne muscular dystrophy. Acta Myol 2006, 25:5-12
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    • 38449087274 scopus 로고    scopus 로고
    • PTC124, nonsense mutations and Duchenne muscular dystrophy
    • Wilton S: PTC124, nonsense mutations and Duchenne muscular dystrophy. Neuromuscul Disord 2007, 17:719-720
    • (2007) Neuromuscul Disord , vol.17 , pp. 719-720
    • Wilton, S.1
  • 15
    • 0030016360 scopus 로고    scopus 로고
    • A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave
    • Lenk U, Oexle K, Voit T, Ancker U, Hellner KA, Speer A, Hübner C: A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave. Hum Mol Gen 1996, 5:973-975
    • (1996) Hum Mol Gen , vol.5 , pp. 973-975
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  • 16
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    • Loss of a single amino acid from dystrophin resulting in Duchenne muscular dystrophy with retention of dystrophin protein
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    • (2003) Hum Mutat , vol.21 , pp. 651
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    • Ginjaar IB, Kneppers AL, v d Meulen JD, Anderson LV, Bremmer-Bout M, van Deutekom JC, Weegenaar J, den Dunnen JT, Bakker E: Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family. Eur J Hum Genet 2000, 8:793-796


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