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An exome sequencing strategy to diagnose lethal autosomal recessive disorders
Rare disorders resulting in prenatal or neonatal death are genetically heterogeneous. For some conditions, affected fetuses can be diagnosed by ultrasound scan, but this is not usually possible until mid-gestation. There is often limited fetal DNA available for investigation. We investigated a strat...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Nature Publishing Group
2015
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4205099/ https://ncbi.nlm.nih.gov/pubmed/24961629 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.120 |
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