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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Dades bibliogràfiques
Publicat a:Mol Genet Genomic Med
Autors principals: 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
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2016
Matèries:
Original Articles
Accés en línia: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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