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Contribution of molecular analyses to the estimation of the risk of congenital myotonic dystrophy.

A molecular analysis of the maternal and child CTG repeat size and intergenerational amplification was performed in order to estimate the risk of having a child with congenital myotonic dystrophy (CMD). In a study of 124 affected mother-child pairs (42 mother-CMD and 82 mother-non-CMD) the mean mate...

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Bibliographische Detailangaben
Hauptverfasser: Cobo, A M, Poza, J J, Martorell, L, López de Munain, A, Emparanza, J I, Baiget, M
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1995
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050229/
https://ncbi.nlm.nih.gov/pubmed/7760317
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