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Comprehensive Carrier Screening and Molecular Diagnostic Testing for Recessive Childhood Diseases
Of 7,028 disorders with suspected Mendelian inheritance, 1,139 are recessive and have an established molecular basis. Although individually uncommon, Mendelian diseases collectively account for ~20% of infant mortality and ~18% of pediatric hospitalizations. Molecular diagnostic testing is currently...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Public Library of Science
2012
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3392137/ https://www.ncbi.nlm.nih.gov/pubmed/22872815 http://dx.doi.org/10.1371/4f9877ab8ffa9 |