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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Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: 2011
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Article
Online Zugang: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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