Telomerase insufficiency induced telomere erosion accumulation in successive generations in dyskeratosis congenita family

Telomerase insufficiency induced telomere erosion accumulation in successive generations in dyskeratosis congenita family

Abstract Background Dyskeratosis congenita (DC) is a rare heritable bone marrow failure syndrome that is associated with telomere dysfunction, and has high genetic heterogeneity and varied features. Objective This study aimed to identify the underlying genetic etiology of a DC family with more sever...

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Bibliographic Details
Main Authors: Caixia He, Shuang Jing, Congling Dai, Chaofeng Tu, Zhenhua Tan, Juan Du, Guang‐Xiu Lu, Ge Lin, Sicong Zeng
Format: Article
Language:English
Published: Wiley 2019-07-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
compound heterozygous mutations
dyskeratosis congenita
telomerase
telomere length
TERT gene
Online Access:https://doi.org/10.1002/mgg3.709

Internet

https://doi.org/10.1002/mgg3.709

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