ArticleMolecular genetics and metabolism reports2021

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.

Guillermo I Drelichman et al.PubMed ↗Full text ↗Publisher ↗

No numbers read from the abstract.