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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Enregistré dans:
Détails bibliographiques
Publié dans:Mol Genet Genomic Med
Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: John Wiley and Sons Inc. 2016
Sujets:
Original Articles
Accès en ligne: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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