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Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases
BACKGROUND: Mitochondrial disorders are a group of rare diseases, caused by nuclear or mitochondrial DNA mutations. Their marked clinical and genetic heterogeneity as well as referral and ascertainment biases render phenotype-based prevalence estimations difficult. Here we calculated the lifetime ri...
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| 發表在: | eBioMedicine |
|---|---|
| Main Authors: | , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Elsevier
2020
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7163308/ https://ncbi.nlm.nih.gov/pubmed/32305867 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ebiom.2020.102730 |
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