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The limitations of qPCR telomere length measurement in diagnosing dyskeratosis congenita

BACKGROUND: Telomere length <1st percentile‐for‐age in leukocyte subsets by flow cytometry with fluorescence in situ hybridization (flow FISH) is highly sensitive and specific in diagnosing patients with dyskeratosis congenita (DC), a telomere biology disorder. METHODS: We evaluated the clinical...

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Detaylı Bibliyografya
Yayımlandı:Mol Genet Genomic Med
Asıl Yazarlar: Gadalla, Shahinaz M., Khincha, Payal P., Katki, Hormuzd A., Giri, Neelam, Wong, Jason Y. Y., Spellman, Stephen, Yanovski, Jack A., Han, Joan C., De Vivo, Immaculata, Alter, Blanche P., Savage, Sharon A.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2016
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4947866/
https://ncbi.nlm.nih.gov/pubmed/27468421
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.220
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