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Development and validation of a haplotype‐free technique for non‐invasive prenatal diagnosis of spinal muscular atrophy
OBJECTIVE: To develop a technique for non‐invasive prenatal diagnosis of spinal muscular atrophy and validate its performance. STUDY DESIGN: Pregnant women with 1 copy of SMN1 and male fetuses were enrolled. Seventeen women were included in test set A, and 10 of them were selected into test set B ra...
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| Опубликовано в: : | J Clin Lab Anal |
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| Главные авторы: | , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
John Wiley and Sons Inc.
2019
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7031576/ https://ncbi.nlm.nih.gov/pubmed/31556165 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jcla.23046 |
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