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Advantages of ddPCR in detection of PLP1 duplications
Pelizaeus-Merzbacher disease (PMD) is an X-linked, recessively inherited disorder associated with hypomyelination in the brain white matter. Mutations involving the proteolipid protein 1 gene (PLP1) located on Xq22.2 are responsible for PMD. PLP1 duplication is the major genetic abnormality in PMD p...
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| 發表在: | Intractable Rare Dis Res |
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| Main Authors: | , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
International Research and Cooperation Association for Bio & Socio-Sciences Advancement
2019
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6743437/ https://ncbi.nlm.nih.gov/pubmed/31523598 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2019.01067 |
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