Identification of Two Missense Mutations of ERCC6 in Three Chinese Sisters with Cockayne Syndrome by Whole Exome Sequencing

Open Access

Peer-reviewed

Research Article

Shanshan Yu ,

Contributed equally to this work with: Shanshan Yu, Liyuan Chen, Xin Yi, Jiansheng Xie

Affiliation BGI-shenzhen, Shenzhen, 518083, China
⨯
Liyuan Chen ,

Contributed equally to this work with: Shanshan Yu, Liyuan Chen, Xin Yi, Jiansheng Xie

Affiliation Prenatal Diagnosis Center, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, 518048, China
⨯
Lili Ye,

Affiliation BGI-shenzhen, Shenzhen, 518083, China
⨯
Lingna Fei,

Affiliation BGI-shenzhen, Shenzhen, 518083, China
⨯
Wei Tang,

Affiliation BGI-shenzhen, Shenzhen, 518083, China
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Yujiao Tian,

Affiliation BGI-shenzhen, Shenzhen, 518083, China
⨯
Qian Geng,

Affiliation Prenatal Diagnosis Center, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, 518048, China
⨯
Xin Yi ,

Contributed equally to this work with: Shanshan Yu, Liyuan Chen, Xin Yi, Jiansheng Xie

* E-mail: jsxie2007@hotmail.com (JX); yix@genomics.cn (XY)

Affiliation BGI-shenzhen, Shenzhen, 518083, China
⨯
Jiansheng Xie

Contributed equally to this work with: Shanshan Yu, Liyuan Chen, Xin Yi, Jiansheng Xie

* E-mail: jsxie2007@hotmail.com (JX); yix@genomics.cn (XY)

Affiliation Prenatal Diagnosis Center, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, 518048, China
⨯

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Missense mutation
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Nonsense mutation
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Heterozygosity
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Cockayne syndrome
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Adenosine triphosphatase
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DNA repair
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Dideoxy DNA sequencing
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Helicases
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