Carrier Screening of Recessive Genetic Disorders by Exon Capture and Next-Generation Sequencing

RP-19 Orphan human Mendelian recessive diseases are individually rare, but together constitute a major healthcare burden and cause significant childhood morbidity and mortality. 20-30% of all infant deaths and 11% of pediatric hospital admissions are related to genetic disorders. In collaboration wi...

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Autori principali: Dinwiddie, D.L., Bell, C.J., Miller, N.A., Crow, J.A., Ganusova, E.E., Hateley, S., Kim, R.W., Kingsmore, S.F., Kim, R.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Association of Biomolecular Resource Facilities 2010
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Poster Session Abstracts
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2918098/
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