A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report
COL6A1基因新变异导致近亲结婚家族中出现乌尔里希先天性肌营养不良症:病例报告
期刊:BMC Neurology
影响因子:2.2
doi:10.1186/s12883-021-02134-7
Sirisena, Nirmala Dushyanthi; Samaranayake, U M Jayami Eshana; Neto, Osorio Lopes Abath; Foley, A Reghan; Pathirana, B A P Sajeewani; Neththikumara, Nilaksha; Paththinige, C Sampath; Rathnayake, Pyara; Donkervoort, Sandra; Bönnemann, Carsten G; Dissanayake, Vajira H W