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

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

Abstract 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 remai...

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Bibliographic Details
Main Authors: Yingqi Shao, Sizhou Feng, Jinbo Huang, Jiali Huo, Yahong You, Yizhou Zheng
Format: Article
Language:English
Published: BMC 2018-03-01
Series:BMC Medical Genetics
Subjects:
WRAP53
Dyskeratosis congenita
Homozygous
Online Access:http://link.springer.com/article/10.1186/s12881-018-0549-1

Internet

http://link.springer.com/article/10.1186/s12881-018-0549-1

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