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Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations

Telomere biology disorders (TBDs) present heterogeneously, ranging from infantile bone marrow failure associated with very short telomeres to adult-onset interstitial lung disease (ILD) with normal telomere length. Yield of genetic testing and phenotypic spectra for TBDs caused by the expanding list...

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Detaylı Bibliyografya
Yayımlandı:Blood Adv
Asıl Yazarlar: Feurstein, Simone, Adegunsoye, Ayodeji, Mojsilovic, Danijela, Vij, Rekha, West DePersia, Allison H., Rajagopal, Padma Sheila, Osman, Afaf, Collins, Robert H., Kim, Raymond H., Gore, Steven D., Greenberg, Peter, Godley, Lucy A., Li, Zejuan, del Gaudio, Daniela, Subramanian, Hari Prasanna, Das, Soma, Walsh, Tom, Gulsuner, Suleyman, Segal, Jeremy P., Husain, Aliya N., Gurbuxani, Sandeep, King, Mary-Claire, Strek, Mary E., Churpek, Jane E.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Society of Hematology 2020
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7556157/
https://ncbi.nlm.nih.gov/pubmed/33035329
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/bloodadvances.2020001721
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