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Article

TERT and TERC mutations detected in cryptic dyskeratosis congenita suppress telomerase activity.

International journal of laboratory hematology - 1 Jun 2020

Terada Kazuki, Miyake Koichi, Yamaguchi Hiroki, Miyake Noriko, Yamanaka Keiichiro, Kojima Seiji, Ito Etsuro, Inokuchi Koiti, Okada Takashi

Abstract excerpt

INTRODUCTION: A cryptic form of dyskeratosis congenita (cDKC) has a gradual onset without the characteristic physical findings of DKC. cDKC is distinguished from other forms of bone marrow failure (BMF) through analysis of telomere shortening and gene mutations. Mutations in the telomerase reverse transcriptase (TERT) and telomere RNA component (TERC) genes have been detected in most Japanese cDKC patients....

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PMID: 32150348
DOI: 10.1111/ijlh.13176

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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