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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: National Academy of Sciences 2005
Pynciau:
Biological Sciences
Mynediad Ar-lein: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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