Need Help?

Novel PARN mutations in Hoyeraal-HReidarsson syndrome patients.

The deposited data correspond to the sequences of PARN gene obtained by whole exome sequencing in two patients carrying mutations in this gene as described in Benyelles et al. EMBO Mol Med 2019.. PARN is a poly(A)-specific ribonuclease that regulates the turnover of mRNAs and the maturation and stabilization of the hTR RNA component of telomerase. Data represent Sequences with PARN mutations that have been identified in two patients with Høyeraal-Hreidarsson (HH) syndrome, a rare telomere biology disorder.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001005125 Illumina HiSeq 2500 2
Publications Citations
Impaired telomere integrity and rRNA biogenesis in PARN-deficient patients and knock-out models.
EMBO Mol Med 11: 2019 e10201