Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.
AEBP1 的双等位基因改变导致胶原蛋白组装和结缔组织结构缺陷，从而导致埃勒斯-当洛斯综合征的变异型
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2018.02.018
Blackburn Patrick R, Xu Zhi, Tumelty Kathleen E, Zhao Rose W, Monis William J, Harris Kimberly G, Gass Jennifer M, Cousin Margot A, Boczek Nicole J, Mitkov Mario V, Cappel Mark A, Francomano Clair A, Parisi Joseph E, Klee Eric W, Faqeih Eissa, Alkuraya Fowzan S, Layne Matthew D, McDonnell Nazli B, Atwal Paldeep S
