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Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD.
J Med Genet. 1996 Nov;33(11):935-9. doi: 10.1136/jmg.33.11.935.
J Med Genet. 1996.
PMID: 8950674
Free PMC article.
Protein truncation test (PTT) to rapidly screen the DMD gene for translation terminating mutations.
Roest PA, Roberts RG, van der Tuijn AC, Heikoop JC, van Ommen GJ, den Dunnen JT.
Roest PA, et al. Among authors: van der tuijn ac.
Neuromuscul Disord. 1993 Sep-Nov;3(5-6):391-4. doi: 10.1016/0960-8966(93)90083-v.
Neuromuscul Disord. 1993.
PMID: 8186681
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Application of in vitro Myo-differentiation of non-muscle cells to enhance gene expression and facilitate analysis of muscle proteins.
Roest PA, van der Tuijn AC, Ginjaar HB, Hoeben RC, Hoger-Vorst FB, Bakker E, den Dunnen JT, van Ommen GJ.
Roest PA, et al. Among authors: van der tuijn ac.
Neuromuscul Disord. 1996 May;6(3):195-202. doi: 10.1016/0960-8966(96)00006-5.
Neuromuscul Disord. 1996.
PMID: 8784808
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