Skin Biopsy Is a Practical Approach for the Clinical Diagnosis and Molecular Genetic Analysis of X-Linked Alport's Syndrome Fang Wang, Dan Zhao, Jie Ding, Hongwen Zhang, Yanqin Zhang, Lixia Yu, Huijie Xiao, Yong Yao, Xuhui Zhong, Suxia Wang The Journal of Molecular Diagnostics Volume 14, Issue 6, Pages 586-593 (November 2012) DOI: 10.1016/j.jmoldx.2012.06.005 Copyright © 2012 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions
Figure 1 Age at onset of ESRD is associated with COL4A5 gene mutation type. Green: Mutations affecting NC domain. Blue: Mutations not affecting NC domain. Incomplete data are indicated by vertical marks (+). The Journal of Molecular Diagnostics 2012 14, 586-593DOI: (10.1016/j.jmoldx.2012.06.005) Copyright © 2012 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions
Figure 2 Age at onset of hearing loss is associated with COL4A5 gene mutation type. Green: Mutations affecting NC domain. Blue: Mutations not affecting NC domain. Incomplete data are indicated by vertical marks (+). The Journal of Molecular Diagnostics 2012 14, 586-593DOI: (10.1016/j.jmoldx.2012.06.005) Copyright © 2012 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions