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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Publicado en:Mol Genet Genomic Med
Autores principales: 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.
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2016
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Original Articles
Acceso en línea: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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