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Published byErik Bagge Modified over 5 years ago
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Six Mutations in AAGAB Confirm Its Pathogenic Role in Chinese Punctate Palmoplantar Keratoderma Patients Hongzhou Cui, Min Gao, Wenjun Wang, Ruo Xiao, Gang Chen, Qing Zhang, Hongyang Fu, Yi Zhou, Birong Guo, Ying Dong, Jie Shen, Min Zhang, Zhen Yue, Fengxia Liu, Da Lin, Tianwen Gao, Anping Zhang, Wenming Zhou, Liangdan Sun, Sen Yang, Jun Wang, Yong Cui, Xuejun Zhang Journal of Investigative Dermatology Volume 133, Issue 11, Pages (November 2013) DOI: /jid Copyright © 2013 The Society for Investigative Dermatology, Inc Terms and Conditions
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Figure 1 Clinical features of the proband and the mutation in AAGAB identified in Family 22. (a, b) The punctate keratoses on palms and soles of the proband. (c, d) The frameshift mutation c.552_554TAG>AT (black arrow) identified in exon 6 of AAGAB. Journal of Investigative Dermatology , DOI: ( /jid ) Copyright © 2013 The Society for Investigative Dermatology, Inc Terms and Conditions
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