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The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy.
The gene for myotonic dystrophy (DM) has recently been isolated and amplification of an unstable CTG trinucleotide repeat, located within the DM gene, has been identified in virtually all patients studied to date. A high proportion of DM families who are studied show a progressively earlier age of o...
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| 出版年: | J Med Genet |
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| 主要な著者: | , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BMJ Publishing Group
1992
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016169/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1453425/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.29.11.774 |
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