Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation.

Abstract excerpt

The two genes mutated in the bone marrow failure syndrome dyskeratosis congenita (DC) both encode components of the telomerase complex responsible for maintaining the ends of chromosomes in stem cells and in the germ line. In reviewing the mutation profile that is found in DC, we describe 9 novel mutations in the DKC1 gene and 3 novel TERC mutations responsible for the X-linked and autosomal dominant forms of the...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Chromosomes, Human, X
• Share to Dyskeratosis Congenita