Mutations in the reverse transcriptase component o...[Blood Cells Mol Dis. 2006 Sep-Oct]

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1: Blood Cells Mol Dis. 2006 Sep-Oct;37(2):134-6. Epub 2006 Aug 23. Links

Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.

PMID: 16934504 [PubMed - indexed for MEDLINE]

TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.
Savage SA, Giri N, Baerlocher GM, Orr N, Lansdorp PM, Alter BP. Am J Hum Genet. 2008 Feb; 82(2):501-9. Epub 2008 Jan 31.

[Am J Hum Genet. 2008]
ReviewThe role of telomere biology in bone marrow failure and other disorders.
Savage SA, Alter BP. Mech Ageing Dev. 2008 Jan-Feb; 129(1-2):35-47. Epub 2007 Nov 19.

[Mech Ageing Dev. 2008]
Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita.
Alter BP, Baerlocher GM, Savage SA, Chanock SJ, Weksler BB, Willner JP, Peters JA, Giri N, Lansdorp PM. Blood. 2007 Sep 1; 110(5):1439-47. Epub 2007 Apr 27.

[Blood. 2007]

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