Biallelic Missense Variants in COG3 Cause a Congenital Disorder of Glycosylation with Impairment of Retrograde Vesicular Trafficking.
Ruizhi Duan,Dana Marafi,Zhi-Jie Xia,Bobby G. Ng,Reza Maroofian,Farhana Taher Sumya,Ahmed K. Saad,Haowei Du,Jawid M. Fatih,Jill V. Hunter,Hasnaa M. Elbendary,Shahid M. Baig,Uzma Abdullah,Zafar Ali,Stephanie Efthymiou,David Murphy,Tadahiro Mitani,Marjorie A. Withers,Shalini N. Jhangiani,Zeynep Coban-Akdemir,Daniel G. Calame,Davut Pehlivan,Richard A. Gibbs,Jennifer E. Posey,Henry Houlden,Vladimir V. Lupashin,Maha S. Zaki,Hudson H. Freeze,James R. Lupski Journal of Inherited Metabolic Disease（2023）
关键词
AOH/ROH analysis,congenital disorders of glycosylation,conserved oligomeric Golgi complex,family-based genomic analysis,retrograde vesicular transport
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