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Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing

Pediatric-onset inflammatory bowel disease (IBD) is known to be associated with severe disease, poor response to therapy, and increased morbidity and mortality. We conducted exome sequencing of two brothers from a non-consanguineous relationship who presented before the age of one with severe infant...

詳細記述

保存先:
書誌詳細
出版年:Genomics
主要な著者: Dinwiddie, Darrell L., Bracken, Julia M., Bass, Julie A., Christenson, Kathy, Soden, Sarah E., Saunders, Carol J., Miller, Neil A., Singh, Vivekanand, Zwick, David L., Roberts, Charles C., Dalal, Jignesh, Kingsmore, Stephen F.
フォーマット: Artigo
言語:Inglês
出版事項: 2013
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC8142851/
https://ncbi.nlm.nih.gov/pubmed/24001973
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ygeno.2013.08.008
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