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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Detalles Bibliográficos
Autores principales: Wei, Xianda, Lv, Weigang, Tan, Hu, Liang, Desheng, Wu, Lingqian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Research Articles
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

Internet

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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