TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita
- 8 February 2008
- journal article
- research article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 82 (2), 501-509
- https://doi.org/10.1016/j.ajhg.2007.10.004
Abstract
No abstract availableThis publication has 46 references indexed in Scilit:
- Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenitaBlood, 2007
- Telomere Maintenance through Spatial Control of Telomeric ProteinsMolecular and Cellular Biology, 2007
- Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10Human Molecular Genetics, 2007
- A critical role for TPP1 and TIN2 interaction in high-order telomeric complex assemblyProceedings of the National Academy of Sciences of the United States of America, 2006
- Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failureBlood Cells, Molecules, and Diseases, 2005
- Mutations inTERT,the Gene for Telomerase Reverse Transcriptase, in Aplastic AnemiaThe New England Journal of Medicine, 2005
- Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome)European Journal of Pediatrics, 2003
- Fatal interstitial pulmonary disease in a patient with dyskeratosis congenita after allogeneic bone marrow transplantationBone Marrow Transplantation, 1997
- Bilateral coats retinopathy associated with aplastic anaemia and mild dyskeratotic signsAmerican Journal of Medical Genetics, 1994
- Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?Journal of Medical Genetics, 1992