The TSC2/PKD1 contiguous gene syndrome.
Harris
P C
PC
MRC Molecular Haematology Unit, John Radcliffe Hospital, Headington, Oxford, UK.
D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D005091:Exons / Q000235:genetics; D017353:Gene Deletion; D005919:Glomerular Filtration Rate; D006801:Humans; D007438:Introns / Q000235:genetics; D007676:Kidney Failure, Chronic / Q000209:etiology; D009154:Mutation / Q000235:genetics; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D017384:Sequence Deletion; D050396:TRPP Cation Channels; D014402:Tuberous Sclerosis / Q000235:genetics*; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins
D011506:Proteins; D012097:Repressor Proteins; D050396:TRPP Cation Channels; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins; C000624653:TSC2 protein, human