Article
Identification of ANKDD1B variants in an ankylosing spondylitis pedigree and a sporadic patient.
BMC medical genetics - 5 Jul 2018
Tan Zhiping, Zeng Hui, Xu Zhaofa, Tian Qi, Gao Xiaoyang, Zhou Chuanman, Zheng Yu, Wang Jian, Ling Guanghui, Wang Bing, Yang Yifeng, Ma Long
Abstract excerpt
BACKGROUND: Ankylosing spondylitis (AS) is a debilitating autoimmune disease affecting tens of millions of people in the world. The genetics of AS is unclear. Analysis of rare AS pedigrees might facilitate our understanding of AS pathogenesis. METHODS: We used genome-wide linkage analysis and whole-exome sequencing in combination with variant co-segregation verification and haplotype analysis to study an AS...
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