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

Crossref DOI link: https://doi.org/10.1186/s12881-018-0549-1

Published Online: 2018-03-07

Published Print: 2018-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Shao, Yingqi

Feng, Sizhou

Huang, Jinbo

Huo, Jiali

You, Yahong

Zheng, Yizhou https://orcid.org/0000-0001-5939-7549
Funding

Funding for this research was provided by:

the National Natural Science Foundation of China (No.81470289)

Tianjin Municipal Science and Technology Commission (No.16JCYBJC26200)
More Information

Article History

Received: 20 September 2017

Accepted: 23 February 2018

First Online: 7 March 2018

Ethics approval and consent to participate

: This study was approved by the Ethics Committees of the Institute of Hematology, CAMS and PUMC (Ethics number: KT2014005-EC-1). Written informed consent was obtained from the patients or their relatives before they participated in this study.

: Written consent was obtained from the patients or their relatives for the publication of this study, including the medical data and the images in Fig..

: The authors declare that they have no competing interests.

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