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

Bi-Rong Guo, Xin Zhang,Gang Chen,Jian-Guo Zhang,Liang-Dan Sun,Wei-Dong Du,Qing Zhang,Yong Cui,Jun Zhu,Xian-Fa Tang,Ruo Xiao,Yuan Liu,Min Li,Hua-Yang Tang,Xu Yang,Hui Cheng,Ming Li,Min Gao,Ping Li,Jian-Bo Wang,Feng-Ping Xu,Xian-Bo Zuo,Xiao-Dong Zheng,Xiao-Guang Zhang,Lin Yang,Jian-Jun Liu,Jun Wang,Sen Yang,Xue-Jun Zhang

JOURNAL OF MEDICAL GENETICS（2012）

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punctate palmoplantar keratoderma,large chinese pedigree,a<i>col14a1</i>mutation,sequencing
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