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Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations
BACKGROUND. Noninvasive prenatal testing can be used to accurately detect chromosomal aneuploidies in circulating fetal DNA; however, the necessity of parental haplotype construction is a primary drawback to noninvasive prenatal diagnosis (NIPD) of monogenic disease. Family-specific haplotype assemb...
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| Опубликовано в: : | J Clin Invest |
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| Главные авторы: | , , , , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
American Society for Clinical Investigation
2015
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4607112/ https://ncbi.nlm.nih.gov/pubmed/26426075 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI79322 |
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