RC Internal medicine

Subject

Browse all works related to RC Internal medicine.

"197" Result

Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome is a severe multisystem disorder caused by mutations in VPS33B and VIPAR. A splice site mutation, VPS33B c.1225+5 G>C, was identified in a patient with attenuated ARC phenotype. Modelling of this mutation and misse…

The observations that form the basis of this thesis were made mainly between 1969 and 1971, following a study of urine acidifying mechanisms in a group of patients, most of whom had renal stones. The patients generally had a substantial reduction in glomerular filtration rate, a…

IL-21 is crucial for anti-viral defense, the germinal center reaction and anti-tumour immunity. Conversely, it has been implicated in various autoimmune conditions, including type-1 diabetes. This study set out to explore how IL-21 influences CD4 T cell immune responses, with pa…