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Segregation distortion of the CTG repeats at the myotonic dystrophy locus.

Myotonic dystrophy (DM), an autosomal dominant neuromuscular disease, is caused by a CTG-repeat expansion, with affected individuals having > or = 50 repeats of this trinucleotide, at the DMPK locus of human chromosome 19q13.3. Severely affected individuals die early in life; the milder form of t...

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Autors principals: Chakraborty, R., Stivers, D. N., Deka, R., Yu, L. M., Shriver, M. D., Ferrell, R. E.
Format: Artigo
Idioma:Inglês
Publicat: 1996
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1915088/
https://ncbi.nlm.nih.gov/pubmed/8659513
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