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Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage
Although technically possible, few clinical laboratories across the world have implemented non-invasive prenatal diagnosis (NIPD) for selected single-gene disorders, mostly owing to the elevated costs incurred. Having previously proven that NIPD for X-linked disorders can be feasibly implemented in...
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| Udgivet i: | Eur J Hum Genet |
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| Main Authors: | , , , , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Nature Publishing Group
2017
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5386415/ https://ncbi.nlm.nih.gov/pubmed/28120840 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.195 |
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