Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease

阿根廷戈谢病国家队列中 GBA1 基因座的长读单分子实时 (SMRT) 测序揭示了严重骨骼表型背后的复杂等位基因的高频率：来自阿根廷戈谢病诊断和治疗小组的合作研究