Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma

✍ Scribed by Guo, B.-R.; Zhang, X.; Chen, G.; Zhang, J.-G.; Sun, L.-D.; Du, W.-d.; Zhang, Q.; Cui, Y.; Zhu, J.; Tang, X.-F.; Xiao, R.; Liu, Y.; Li, M.; Tang, H.-Y.; Yang, X.; Cheng, H.; Li, M.; Gao, M.; Li, P.; Wang, J.-B.; Xu, F.-P.; Zuo, X.-B.; Zheng, X.-D.; Zhang, X.-G.; Yang, L.; Liu, J.-J.; Wang, J.; Yang, S.; Zhang, X.-J.

• Book ID: 118065682
• Publisher: BMJ Publishing Group
• Year: 2012
• Tongue: English
• Weight: 250 KB
• Volume: 49
• Category: Article
• ISSN: 0022-2593
• DOI: 10.1136/jmedgenet-2012-100868