Influence of sex of the transmitting parent as well as of parental allele site on the CTG expansion in myotonic dystrophy (DM)

In patients with myotonic dystrophy (DM), the severity of clinical signs is correlated with the length of a (CTG)(n) trinucleotide repeat sequence. This sequence tends to expand in subsequent generations. In order to examine the kinetics of this process and, in particular, the influence of the mutan...

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Hlavní autoři: Brunner, H. G., Brüggenwirth, H. T., Nillesen, W., Jansen, G., Hamel, B. C. J., Hoppe, R. L. E., de Die, C. E. M., Höweler, C. J., van Oost, B. A., Wieringa, B., Ropers, H. H., Smeets, H. J. M.
Médium: Artigo
Jazyk:Inglês
Vydáno: 1993
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Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682295/
https://ncbi.nlm.nih.gov/pubmed/8213829
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