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Alternative splicing of dystrophin mRNA complicates carrier determination: report of a DMD family.
Carrier determination is important for genetic counselling in DMD/BMD families. The detection of altered PCR amplified dystrophin mRNA fragments owing to deletions, insertions, or point mutations has increased the possibilities of carrier determination. However, problems may occur because of alterna...
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| Vydáno v: | J Med Genet |
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| Hlavní autoři: | , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BMJ Publishing Group
1993
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016300/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8474106/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.30.3.206 |
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