Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita

Dyskeratosis congenita is a rare inherited disorder characterized by abnormal skin manifestations. Morbidity and mortality from this disease is usually due to bone marrow failure, but idiopathic pulmonary fibrosis and an increased cancer predisposition also occur. Families with autosomal dominant dy...

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Bibliographische Detailangaben
Hauptverfasser: Armanios, Mary, Chen, Jiunn-Liang, Chang, Yen-Pei Christy, Brodsky, Robert A., Hawkins, Anita, Griffin, Constance A., Eshleman, James R., Cohen, Alan R., Chakravarti, Aravinda, Hamosh, Ada, Greider, Carol W.
Format: Artigo
Sprache:Inglês
Veröffentlicht: National Academy of Sciences 2005
Schlagworte:
Biological Sciences
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1276104/
https://ncbi.nlm.nih.gov/pubmed/16247010
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0508124102
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