Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

Of 7028 disorders with suspected Mendelian inheritance, 1139 are recessive and have an established molecular basis. Although individually uncommon, Mendelian diseases collectively account for ~20% of infant mortality and ~10% of pediatric hospitalizations. Preconception screening, together with gene...

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Bibliografiske detaljer
Main Authors: Bell, Callum J., Dinwiddie, Darrell L., Miller, Neil A., Hateley, Shannon L., Ganusova, Elena E., Mudge, Joann, Langley, Ray J., Zhang, Lu, Lee, Clarence C., Schilkey, Faye D., Sheth, Vrunda, Woodward, Jimmy E., Peckham, Heather E., Schroth, Gary P., Kim, Ryan W., Kingsmore, Stephen F.
Format: Artigo
Sprog:Inglês
Udgivet: 2011
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3740116/
https://ncbi.nlm.nih.gov/pubmed/21228398
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/scitranslmed.3001756
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