共 50 条
- [31] Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, 2004, 1657 : 29 - 29
- [39] A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia Human Genetics, 2005, 116 : 114 - 120