Prenatal diagnosis of 1408 foetuses at risk of DMD/BMD by MLPA and Sanger sequencing combined with STR linkage analysis
Abstract Objective This study is a retrospective analysis of the prenatal genetic diagnosis results of 1408 foetuses at high risk of DMD/BMD to provide information for clinical genetic counselling. Background Duchenne muscular dystrophy (DMD) is a severe neuromuscular disorder characterized by skele...
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| 主要な著者: | , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BMC
2023-12-01
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| シリーズ: | BMC Medical Genomics |
| 主題: | |
| オンライン･アクセス: | https://doi.org/10.1186/s12920-023-01746-x |
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