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Article

[Genotype analysis and telomere length measure in patients with dyskeratosis congenita].

Zhongguo shi yan xue ye xue za zhi - 1 Feb 2015

Zhang Jia-Yuan, An Wen-Bin, Zhang Li, Chang Li-Xian, Qi Ben-Quan, Liu Tian-Feng, Liu Fang, Yang Wen-Yu, Guo Ye, Zhu Xiao-Fan

Abstract excerpt

OBJECTIVE: To analysze genotype and measure telomere length in two Chinese patients with dyskeratosis congenita(DC). METHODS: The peripleral blood DNA was extracted in two patients characterized by mucocutaneous abnormalities (abnormal nails, lacy reticulated skin pigmentation, and oral leukoplakia), bone marrow failure, DC genes were amplified by polymerase chain reaction (PCR), including DKC1, TERT, TERC,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to In Situ Hybridization, Fluorescence

Share to Sequence Analysis, DNA

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Source

Identifiers

PMID: 25687075
DOI: 10.7534/j.issn.1009-2137.2015.01.040

Genes

TINF2
DKC1
NHP2
NOP10
TERT

Variants

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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