Intron retention by a novel intronic mutation in <i>DKC1</i> gene caused recurrent still birth and early death in a Chinese family-Reference-Cited by-同舟云学术

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

Published:2022-04-06 Issue:6 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Guo Qiufang¹²^ORCID,Zhang Ping¹,Ying Wenjing³,Wang Yaqiong¹,Zhu Jitao¹,Li Gang¹,Wang Huijun¹^ORCID,Wang Xiaochuan¹,Lei Caixia⁴,Zhou Wenhao¹^ORCID,Sun Jinqiao³,Wu Bingbing¹

Affiliation:

1. Center of Molecular Medicine, Pediatrics Research Institute Children's Hospital of Fudan University, National Children's Medical Center Shanghai China

2. Berry Genomics Co. Beijing China

3. Department of Allergy and Clinical Immunology Children's Hospital of Fudan University, National Children's Medical Center Shanghai China

4. Prenatal Diagnosis Center Obstetrics and Gynecology Hospital of Fudan University Shanghai China

Funder

Science and Technology Commission of Shanghai Municipality

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1934

Reference26 articles.

1. Complications for a Hoyeraal–Hreidarsson Syndrome Patient with a Germline DKC1 A353V Variant Undergoing Unrelated Peripheral Blood Stem Cell Transplantation

2. Clinical utility gene card for: Dyskeratosis congenita

3. Telomere dynamics and hematopoietic differentiation of human DKC1-mutant induced pluripotent stem cells

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Epigenetic disruptions in the offspring hypothalamus in response to maternal infection;Gene;2024-06

2. A pan-cancer analysis of Dyskeratosis congenita 1 (DKC1) as a prognostic biomarker;Hereditas;2023-12-11

3. A pan-cancer analysis of Dyskeratosis congenita 1 (DKC1) as a prognostic biomarker;2023-02-03

4. Genetics of human telomere biology disorders;Nature Reviews Genetics;2022-09-23

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