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Germline mosaicism and Duchenne muscular dystrophy mutations

✍ Scribed by Bakker, E.; Broeckhoven, Ch. Van; Bonten, E. J.; van de Vooren, M. J.; Veenema, H.; Hul, W. Van; Ommen, G. J. B. Van; Vandenberghe, A.; Pearson, P. L.


Book ID
109750770
Publisher
Nature Publishing Group
Year
1987
Tongue
English
Weight
493 KB
Volume
329
Category
Article
ISSN
0028-0836

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The family of a male with Duchenne muscular dystrophy (DMD) and a deletion within the dystrophin gene has been studied. Polymerase chain reaction analysis of ectopic mRNA from peripheral blood T+B lymphocytes and the use of (CA) n repeat polymorphisms in and around the deleted region showed the prob