Characteristics of Intergenerational Contractions of the CTG Repeat in Myotonic Dystrophy

In myotonic dystrophy (DM), the size of a CTG repeat in the DM kinase gene generally increases in successive generations with clinical evidence of anticipation. However, there have also been cases with an intergenerational contraction of the repeat. We examined 1,489 DM parent-offspring pairs, of wh...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Ashizawa, T., Anvret, M., Baiget, M., Barceló, J. M., Brunner, H., Cobo, A. M., Dallapiccola, B., Fenwick, R. G., Grandell, U., Harley, H., Junien, C., Koch, M. C., Korneluk, R. G., Lavedan, C., Miki, T., Mulley, J. C., de Munain, A. López, Novelli, G., Roses, A. D., Seltzer, W. K., Shaw, D. J., Smeets, H., Sutherland, G. R., Yamagata, H., Harper, P. S.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1994
Gaiak:
Original Articles
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918128/
https://ncbi.nlm.nih.gov/pubmed/8116611
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