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.

We have used an RNA based mutation detection method to screen the total coding region of the dystrophin gene of a Duchenne and a Becker muscular dystrophy patient in whom DNA based mutation detection methods have so far failed to detect mutations. By RT-PCR and the protein truncation test (PTT) we c...

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Bibliographic Details
Main Authors:	Roest, P A, Bout, M, van der Tuijn, A C, Ginjaar, I B, Bakker, E, Hogervorst, F B, van Ommen, G J, den Dunnen, J T
Format:	Artigo
Language:	Inglês
Published:	1996
Subjects:	Research Article
Online Access:	https://ncbi.nlm.nih.gov/pmc/articles/PMC1050788/ https://ncbi.nlm.nih.gov/pubmed/8950674
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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.

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