Article
Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2.
Clinical genetics - 1 Jan 2012
Vulliamy T, Beswick R, Kirwan M J, Hossain U, Walne A J, Dokal I
Abstract excerpt
Dyskeratosis congenita (DC) is a heterogeneous bone marrow failure syndrome with seven disease-causing genes identified to date, six of which are linked to telomere maintenance. Mutations in one of these genes (TINF2), which encodes a component of the shelterin complex, are associated with particularly short telomeres. Among the 224 consecutive patients with different forms of bone marrow failure (46 with DC, 122...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.