PubMed:11399210 JSONTXT

{"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"}],"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."}

{"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"}],"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."}