Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus
四名新 ALG3-CDG 患者的新变异和临床症状、文献综述以及 AAGRP-ALG3 的鉴定为一种 N 端富含丙氨酸和甘氨酸的新型 ALG3 变异
期刊:Human Mutation
影响因子:3.3
doi:10.1002/humu.23764
Nastassja Himmelreich, Bianca Dimitrov, Virginia Geiger, Matthias Zielonka, Anna-Marlen Hutter, Lars Beedgen, Andreas Hüllen, Maximilian Breuer, Verena Peters, Kai-Christian Thiemann, Georg F Hoffmann, Irmgard Sinning, Thierry Dupré, Sandrine Vuillaumier-Barrot, Catherine Barrey, Jonas Denecke, Wolf