Identification of a homozygous BBS7 frameshift mutation in two (related) Chinese Miao families with Bardet-Biedl Syndrome - Shen, Tao; Gao, Jian-Mei; Shou, Tao; Li, Li; Zhang, Jin-Ping; Zhao, Qian; Yan, Xin-Min (Journal of the Chinese Medical Association, 2019)
Keywords: Adult; Bardet-Biedl Syndrome - genetics; Female; Frameshift Mutation; Humans; Male; Proteins - genetics; Whole Exome Sequencing