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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...
Autores principales: | Wei, Xianda, Lv, Weigang, Tan, Hu, Liang, Desheng, Wu, Lingqian |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7031576/ https://www.ncbi.nlm.nih.gov/pubmed/31556165 http://dx.doi.org/10.1002/jcla.23046 |
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