A unique homozygous WRAP53 Arg298Trp mutation underlies dyskeratosis congenita in a Chinese Han family

BACKGROUND: Dyskeratosis congenita (DC) is an inherited telomeropathy characterized by mucocutaneous dysplasia, bone marrow failure, cancer predisposition, and other somatic abnormalities. Cells from patients with DC exhibit short telomere. The genetic basis of the majority of DC cases remains unkno...

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Detalles Bibliográficos
Autores principales: Shao, Yingqi, Feng, Sizhou, Huang, Jinbo, Huo, Jiali, You, Yahong, Zheng, Yizhou
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5842585/
https://www.ncbi.nlm.nih.gov/pubmed/29514627
http://dx.doi.org/10.1186/s12881-018-0549-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5842585/
https://www.ncbi.nlm.nih.gov/pubmed/29514627
http://dx.doi.org/10.1186/s12881-018-0549-1

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