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Duchenne muscular dystrophy in a female with a translocation involving Xp21.

A female with Duchenne muscular dystrophy, diagnosed at the age of 3 years 8 months, is reported. Chromosome studies revealed an X;autosome reciprocal translocation t(X;5) (p21.2;q31.2). With the BrdU-Hoechst 33258-Giemsa technique, there was nonrandom preferential inactivation of the normal X. Our...

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Bibliografische gegevens
Hoofdauteurs: Nevin, N C, Hughes, A E, Calwell, M, Lim, J H
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 1986
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049575/
https://ncbi.nlm.nih.gov/pubmed/3712394
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