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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.

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Presentation on theme: "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."— Presentation transcript:

1 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 (November 2012) DOI: /j.jmoldx Copyright © 2012 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

2 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  , DOI: ( /j.jmoldx ) Copyright © 2012 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

3 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  , DOI: ( /j.jmoldx ) Copyright © 2012 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

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