Large Region of Homozygous (ROH) Identified in Indian Patients with Autosomal Recessive Limb-Girdle Muscular Dystrophy with p.Thr182Pro Variant in SGCB Gene
在印度患有常染色体隐性肢带型肌营养不良症且SGCB基因存在p.Thr182Pro变异的患者中,发现了大片纯合区域(ROH)。
期刊:Human Mutation
影响因子:3.7
doi:10.1155/2023/4362273
Manjunath, V; Thenral, S G; Lakshmi, B R; Nalini, Atchayaram; Bassi, A; Karthikeyan, K Priya; Piyusha, K; Menon, R; Malhotra, A; Praveena, L S; Anjanappa, R M; Murugan, S M Sakthivel; Polavarapu, Kiran; Bardhan, Mainak; Preethish-Kumar, V; Vengalil, Seena; Nashi, Saraswati; Sanga, S; Acharya, M; Raju, R; Pai, V R; Ramprasad, V L; Gupta, R