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MALDI-TOF-MS Assay to Detect the Hemizygous 22q11.2 Deletion in DNA from Dried Blood Spots
BACKGROUND: A hemizygous deletion of 1.5–3 Mb in 22q11.2 causes a distinct clinical syndrome with variable congenital defects. Current diagnostic methods use fluorescent in situ hybridization (FISH) or comparative genomic hybridization by microarray to detect the deletion. Neither method is suitable...
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| Pubblicato in: | Clin Chem |
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| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2015
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5726890/ https://ncbi.nlm.nih.gov/pubmed/26585925 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1373/clinchem.2015.247148 |
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