Article
Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita.
The Journal of clinical investigation - 1 May 2015
Tummala Hemanth, Walne Amanda, Collopy Laura, Cardoso Shirleny, de la Fuente Josu, Lawson Sarah, Powell James, Cooper Nicola, Foster Alison, Mohammed Shehla, Plagnol Vincent, Vulliamy Thomas, Dokal Inderjeet
Abstract excerpt
Dyskeratosis congenita (DC) and related syndromes are inherited, life-threatening bone marrow (BM) failure disorders, and approximately 40% of cases are currently uncharacterized at the genetic level. Here, using whole exome sequencing (WES), we have identified biallelic mutations in the gene encoding poly(A)-specific ribonuclease (PARN) in 3 families with individuals exhibiting severe DC. PARN is an extensively...
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