Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy.
通过短读长全基因组测序在患有肢带型肌营养不良症的患者中检测到 13 号染色体上涉及 SGCG 的纯合倒位
期刊:Genes
影响因子:2.8
doi:10.3390/genes13101752
Pluta Natalie, Hoffjan Sabine, Zimmer Frederic, Köhler Cornelia, Lücke Thomas, Mohr Jennifer, Vorgerd Matthias, Nguyen Hoa Huu Phuc, Atlan David, Wolf Beat, Zaum Ann-Kathrin, Rost Simone
