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Article

Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency.

BMC genomics - 17 Oct 2016

Holohan Brody, Kim Wanil, Lai Tsung-Po, Hoshiyama Hirotoshi, Zhang Ning, Alazami Anas M, Wright Woodring E, Meyn M Stephen, Alkuraya Fowzan S, Shay Jerry W

Abstract excerpt

BACKGROUND: Loss of function in genes required for telomere maintenance result in disorders known as telomeropathies, which are characterized by a pattern of symptoms including generalized and specific lymphocytopenias as well as very short telomere length and disease anticipation. METHODS: Because human LARP7 is the most likely ortholog of the Tetrahymena p65 protein, which is required for telomerase activity in...

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Identifiers

PMID: 27766953
DOI: 10.1186/s12864-016-3093-4
PMCID: PMC5073984

Genes

LARP7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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