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Whole-exome sequencing and whole genome re-sequencing for prenatal diagnosis of achondroplasia
Objective: To investigate the feasibility of whole exome sequencing (WES) and whole genome re-sequencing (WGS) in the prenatal diagnosis of achondroplasia (ACH). Methods: Eleven highly suspected with ACH or hypochondroplasia (HCH) fetuses and their parents were enrolled in this study. Routine prenat...
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| Опубликовано в: : | Int J Clin Exp Med |
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| Главные авторы: | , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
e-Century Publishing Corporation
2015
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4694460/ https://ncbi.nlm.nih.gov/pubmed/26770560 |
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