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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Detalles Bibliográficos
Autores principales: Ellard, Sian, Kivuva, Emma, Turnpenny, Peter, Stals, Karen, Johnson, Matthew, Xie, Weijia, Caswell, Richard, Lango Allen, Hana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4205099/
https://www.ncbi.nlm.nih.gov/pubmed/24961629
http://dx.doi.org/10.1038/ejhg.2014.120

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4205099/
https://www.ncbi.nlm.nih.gov/pubmed/24961629
http://dx.doi.org/10.1038/ejhg.2014.120

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