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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...
Guardat en:
| Publicat a: | J Clin Invest |
|---|---|
| Autors principals: | , , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
American Society for Clinical Investigation
2015
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| Matèries: | |
| Accés en línia: | 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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