Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia

Current methods for detecting mutations in Fanconi anemia (FA)–suspected patients are inefficient and often miss mutations. We have applied recent advances in DNA sequencing and genomic capture to the diagnosis of FA. Specifically, we used custom molecular inversion probes or TruSeq-enrichment oligo...

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Detalhes bibliográficos
Main Authors: Chandrasekharappa, Settara C., Lach, Francis P., Kimble, Danielle C., Kamat, Aparna, Teer, Jamie K., Donovan, Frank X., Flynn, Elizabeth, Sen, Shurjo K., Thongthip, Supawat, Sanborn, Erica, Smogorzewska, Agata, Auerbach, Arleen D., Ostrander, Elaine A.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2013
Assuntos:
Red Cells, Iron, and Erythropoiesis
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3668494/
https://ncbi.nlm.nih.gov/pubmed/23613520
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2012-12-474585
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