PubMed:11399210 JSONTXT

{"target":"http://pubannotation.org/docs/sourcedb/PubMed/sourceid/11399210","sourcedb":"PubMed","sourceid":"11399210","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/11399210","text":"Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene.\nPURPOSE: To identify mutations in families with acute intermittent porphyria, an autosomal dominant inborn error of metabolism that results from the half-normal activity of the third enzyme in the heme biosynthetic pathway, hydroxymethylbilane synthase.\nMETHODS: Mutations were identified by direct solid phase sequencing.\nRESULTS: Two novel missense mutations E80G and T78P and three previously reported mutations, R173W, G111R, and the splice site lesion, IVS1+1, were detected, each in an unrelated proband. The causality of the novel missense mutations was demonstrated by expression studies.\nCONCLUSION: These findings provide for the precise diagnosis of carriers in these families and further expand the molecular heterogeneity of AIP.","tracks":[{"project":"PubTator4TogoVar","denotations":[{"id":"11399210_0","span":{"begin":519,"end":524},"obj":"ProteinMutation"}],"attributes":[{"id":"11399210_0_ProteinMutation","pred":"proteinmutation","subj":"11399210_0","obj":"rs575222284"},{"subj":"11399210_0","pred":"source","obj":"PubTator4TogoVar"}]},{"project":"DisGeNET5_gene_disease","denotations":[{"id":"11399210-0#68#96#gene3145","span":{"begin":68,"end":96},"obj":"gene3145"},{"id":"11399210-0#0#28#diseaseC0162565","span":{"begin":0,"end":28},"obj":"diseaseC0162565"}],"relations":[{"id":"68#96#gene31450#28#diseaseC0162565","pred":"associated_with","subj":"11399210-0#68#96#gene3145","obj":"11399210-0#0#28#diseaseC0162565"}],"attributes":[{"subj":"11399210-0#68#96#gene3145","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"11399210-0#0#28#diseaseC0162565","pred":"source","obj":"DisGeNET5_gene_disease"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"PubTator4TogoVar","color":"#a4ec93","default":true},{"id":"DisGeNET5_gene_disease","color":"#ec93be"}]}]}}