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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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Détails bibliographiques
Auteurs principaux: Ellard, Sian, Kivuva, Emma, Turnpenny, Peter, Stals, Karen, Johnson, Matthew, Xie, Weijia, Caswell, Richard, Lango Allen, Hana
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2015
Sujets:
Accès en ligne: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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