Intron retention by a novel intronic mutation in DKC1 gene caused recurrent still birth and early death in a Chinese family

Intron retention by a novel intronic mutation in DKC1 gene caused recurrent still birth and early death in a Chinese family

Abstract Background DKC1, the dyskerin encoding gene, functions in telomerase activity and telomere maintenance. DKC1 mutations cause a multisystem disease, dyskeratosis congenita (DC), which is associated with immunodeficiency and bone marrow failure. Methods In this research, we reported a novel i...

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Bibliographic Details
Main Authors: Qiufang Guo, Ping Zhang, Wenjing Ying, Yaqiong Wang, Jitao Zhu, Gang Li, Huijun Wang, Xiaochuan Wang, Caixia Lei, Wenhao Zhou, Jinqiao Sun, Bingbing Wu
Format: Article
Language:English
Published: Wiley 2022-06-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
DKC1
intron retention
intronic mutation
minigene splicing assay
Online Access:https://doi.org/10.1002/mgg3.1934

Internet

https://doi.org/10.1002/mgg3.1934

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