Novel PARN mutations in Hoyeraal-HReidarsson syndrome patients.

Study ID Alternative Stable ID Type
EGAS00001003623 Other

Study Description

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.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
PARN sequences of Patients 1 and 2 carrying mutatoins as decribed in Benyelles et al., EMBO Molecular Medicine 2019)
Illumina HiSeq 2500 2

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