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

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 intronic...

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Detalles Bibliográficos
Autores principales: Guo, Qiufang, Zhang, Ping, Ying, Wenjing, Wang, Yaqiong, Zhu, Jitao, Li, Gang, Wang, Huijun, Wang, Xiaochuan, Lei, Caixia, Zhou, Wenhao, Sun, Jinqiao, Wu, Bingbing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9184655/
https://www.ncbi.nlm.nih.gov/pubmed/35384376
http://dx.doi.org/10.1002/mgg3.1934

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9184655/
https://www.ncbi.nlm.nih.gov/pubmed/35384376
http://dx.doi.org/10.1002/mgg3.1934

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