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

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

Guo, QF; Zhang, P; Ying, WJ; Wang, YQ; Zhu, JT; Li, G; Wang, HJ; Wang, XC; Lei, CX; Zhou, WH; Sun, JQ; Wu, BB

Sun, JQ (通讯作者)，Fudan Univ, Dept Allergy & Clin Immunol, Childrens Hosp, Inst Biomed Sci, 399 Wan Yuan Rd, Shanghai 201102, Peoples R China.;Wu, BB (通讯作者)，Fudan Univ, Ctr Mol Med, Key Lab Birth Defects, Pediat Res Inst,Childrens Hosp, 399 Wan Yuan Rd, Shanghai 201102, Peoples R China.

Abstract

Background: DKC1, the dyskerin encoding gene, functions in telomerase activity and telomere maintenance. DKC1 mutations cause a multisystem disease, d......

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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

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