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TIN2 Protein Dyskeratosis Congenita Missense Mutants Are Defective in Association with Telomerase

3 May 2011

Abstract excerpt

Dyskeratosis congenita (DC) is a progressive and heterogeneous congenital disorder that affects multiple systems and is characterized by bone marrow failure and a triad of abnormal skin pigmentation, nail dystrophy, and oral leukoplakia. One common feature for all DC patients is abnormally short telomeres and defects in telomere biology. Most of the known DC mutations have been found to affect core components of...

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Share to Telomeres, Telomerase, and Senescence

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 21536674
DOI: 10.1074/jbc.m111.225870

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