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New disease loci
Original article
Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma

Authors

  • Bi-Rong Guo 1Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui, China2State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Hefei, Anhui, China PubMed articlesGoogle scholar articles
  • Xin Zhang 1Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui, China2State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Hefei, Anhui, China PubMed articlesGoogle scholar articles
  • Gang Chen 2State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Hefei, Anhui, China PubMed articlesGoogle scholar articles
  • Jian-Guo Zhang 3Beijing Genomics Institute-Shenzhen, Shenzhen, China4T-Life Research Center, Fudan University Shanghai, China PubMed articlesGoogle scholar articles
  • Liang-Dan Sun 1Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui, China2State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Hefei, Anhui, China PubMed articlesGoogle scholar articles
  • Wei-dong Du 2State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Hefei, Anhui, China PubMed articlesGoogle scholar articles
  • Qing Zhang 3Beijing Genomics Institute-Shenzhen, Shenzhen, China PubMed articlesGoogle scholar articles
  • Yong Cui 1Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui, China2State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Hefei, Anhui, China PubMed articlesGoogle scholar articles
  • Jun Zhu 1Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui, China2State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Hefei, Anhui, China PubMed articlesGoogle scholar articles
  • Xian-Fa Tang 1Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui, China2State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Hefei, Anhui, China PubMed articlesGoogle scholar articles
  • Ruo Xiao 3Beijing Genomics Institute-Shenzhen, Shenzhen, China PubMed articlesGoogle scholar articles
  • Yuan Liu 1Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui, China2State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Hefei, Anhui, China PubMed articlesGoogle scholar articles
  • Min Li 1Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui, China2State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Hefei, Anhui, China PubMed articlesGoogle scholar articles
  • Hua-Yang Tang 1Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui, China2State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Hefei, Anhui, China PubMed articlesGoogle scholar articles
  • Xu Yang 3Beijing Genomics Institute-Shenzhen, Shenzhen, China PubMed articlesGoogle scholar articles
  • Hui Cheng 1Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui, China2State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Hefei, Anhui, China PubMed articlesGoogle scholar articles
  • Ming Li 5Department of Dermatology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China PubMed articlesGoogle scholar articles
  • Min Gao 1Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui, China2State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Hefei, Anhui, China PubMed articlesGoogle scholar articles
  • Ping Li 1Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui, China2State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Hefei, Anhui, China PubMed articlesGoogle scholar articles
  • Jian-Bo Wang 1Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui, China2State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Hefei, Anhui, China PubMed articlesGoogle scholar articles
  • Feng-Ping Xu 3Beijing Genomics Institute-Shenzhen, Shenzhen, China PubMed articlesGoogle scholar articles
  • Xian-Bo Zuo 2State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Hefei, Anhui, China PubMed articlesGoogle scholar articles
  • Xiao-Dong Zheng 2State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Hefei, Anhui, China PubMed articlesGoogle scholar articles
  • Xiao-Guang Zhang 1Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui, China2State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Hefei, Anhui, China PubMed articlesGoogle scholar articles
  • Lin Yang 3Beijing Genomics Institute-Shenzhen, Shenzhen, China PubMed articlesGoogle scholar articles
  • Jian-Jun Liu 2State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Hefei, Anhui, China PubMed articlesGoogle scholar articles
  • Jun Wang 3Beijing Genomics Institute-Shenzhen, Shenzhen, China6Department of Biology, University of Copenhagen, Copenhagen, Denmark PubMed articlesGoogle scholar articles
  • Sen Yang 1Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui, China2State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Hefei, Anhui, China PubMed articlesGoogle scholar articles
  • Xue-Jun Zhang 1Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui, China2State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Hefei, Anhui, China PubMed articlesGoogle scholar articles
  1. Correspondence to Professor Jun Wang, wangj{at}genomics.org.cn; Professor Sen Yang, yangsen{at}medmail.com.cn
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Citation

Guo B, Zhang X, Chen G, et al
Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma
Journal of Medical Genetics 2012;49:563-568.

Publication history

  • Received March 5, 2012
  • Accepted July 25, 2012
  • First published September 11, 2012.
Online issue publication 
April 27, 2016

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