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Specific molecular prenatal diagnosis for the CTG mutation in myotonic dystrophy.

The results of DNA analysis for the specific mutation of myotonic dystrophy are reported in eight pregnancies (two studied retrospectively) in six families. Four results were normal; in the other four, large DNA expansions were found, comparable to the range seen in severely affected children with c...

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Detalhes bibliográficos
Main Authors: Myring, J, Meredith, A L, Harley, H G, Kohn, G, Norbury, G, Harper, P S, Shaw, D J
Formato: Artigo
Idioma:Inglês
Publicado em: 1992
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016171/
https://ncbi.nlm.nih.gov/pubmed/1453427
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