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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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| 主要な著者: | , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Association of Biomolecular Resource Facilities
2010
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2918098/ |
| タグ: |
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