FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies

作者：Xiaona Fu, Haipo Yang, Cuijie Wei, Hui Jiao, Shuo Wang, Yanling Yang, Chunxi Han, Xiru Wu, Hui Xiong · 发表于：Journal of Human Genetics · 年份：2016 · DOI：10.1038/jhg.2016.94 · 被引用次数：20 · 研究领域：Muscle Physiology and Disorders、Adipose Tissue and Metabolism、Genetic Neurodegenerative Diseases