Identification of novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease by targeted next-generation sequencing
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- 作者：Tao Yanga ; tyang@ibms.pumc.edu.cn" class="auth_mail ; Yan Menga ; Xiaoming Weib ; Jiandong Shenc ; Mingrong Zhangb ; Chen Qia ; Chundan Wanga ; Jiayin Liuc ; Minrui Maa ; Shangzhi Huanga ; hsz_pumc@ibms.pumc.edu.cn" class="auth_mail
- 关键词：ADPKD ; Mutation ; PKD1 ; Targeted next-generation sequencing
- 刊名：Clinica Chimica Acta
- 出版年：10 June 2014
- 年：2014
- 卷：433
- 期：Complete
- 页码：12-19
- 全文大小：1664 K
文摘
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Targeted capture and NGS technology are effective for mutation detection in PKD1 gene.
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One-step PKD1-specific PCR was established to amply the complex reiterated regions of PKD1 gene.
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Five novel variations were detected in PKD1 gene and four of them were identified as pathogenic mutations.
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Novel mutations found in Chinese Hans enriched the mutation database in Asian population.
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