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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...

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Bibliografische gegevens
Hoofdauteurs: Ellard, Sian, Kivuva, Emma, Turnpenny, Peter, Stals, Karen, Johnson, Matthew, Xie, Weijia, Caswell, Richard, Lango Allen, Hana
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group 2015
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Online toegang: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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