This section considers studies of the structure and function of genes and chromosomes, with relation to human health and disease and the role of genetic mutations and cytogenetic changes in human genetic disorders.
Genetic analysis and clinical assessment of four patients with Glycogen Storage Disease Type IIIa in China
Glycogen Storage Disease Type III (GSD III) is a rare autosomal recessive metabolic disorder caused by AGL gene mutation. There is significant heterogeneity between the clinical manifestations and the gene mutati...
Citation: BMC Medical Genetics 2018 19:54