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Next‐generation sequencing detection and characterization of a heterozygous novel splice junction mutation in the 2B domain of KRT1 in a family with diffuse palmoplantar keratoderma
Authors:Santasree Banerjee  Yunqing Ren  Tianying Wei  Zhongwei Zhou  Ping Yu  Fenghui Guan  Xiaonming Wei  Sheng Ye  Shaofeng Yan  Min Zheng  Michael L Raff  Ming Qi
Institution:1. Department of Cell Biology and Medical Genetics, School of Medicine, Zhejiang University, Hangzhou, China;2. Department of Dermatology, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China;3. Centre for Structural Biology, Life Sciences Institute, Zhejiang University, Hangzhou, China;4. Beijing Genomic Institute (BGI), Shenzhen, China;5. Pathology, Dartmouth‐Hitchcock Medical Center, Lebanon, NH, USA;6. Genomics Institute, MultiCare Health System, Tacoma, WA, USA;7. Department of Pathology, University of Rochester Medical Centre, Rochester, NY, USA
Abstract:
Keywords:
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