PubMed:10073910 JSONTXT

{"project":"PubTator4TogoVar","denotations":[{"id":"10073910_0","span":{"begin":577,"end":582},"obj":"ProteinMutation"}],"attributes":[{"id":"10073910_0_ProteinMutation","pred":"proteinmutation","subj":"10073910_0","obj":"rs121965076"}],"text":"Genotyping of a case of tyrosinaemia type I with normal level of succinylacetone in amniotic fluid.\nTyrosinaemia type I is caused by a deficiency of fumarylacetoacetate hydrolase and mainly affects the liver. This disease is characterized by the presence of a high level of succinylacetone. This metabolite has been used for prenatal diagnosis from amniotic fluid samples. One case with a normal level of succinylacetone in amniotic fluid has recently been described (Grenier et al., 1996). Here, we report that this patient is a compound heterozygote for two known mutations: E364X and IVS6-1g--\u003et. The low level of succinylacetone cannot be explained by these mutations."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"10073910-1#49#78#gene2184","span":{"begin":149,"end":178},"obj":"gene2184"},{"id":"10073910-1#0#12#diseaseC0268483","span":{"begin":100,"end":112},"obj":"diseaseC0268483"}],"relations":[{"id":"49#78#gene21840#12#diseaseC0268483","pred":"associated_with","subj":"10073910-1#49#78#gene2184","obj":"10073910-1#0#12#diseaseC0268483"}],"text":"Genotyping of a case of tyrosinaemia type I with normal level of succinylacetone in amniotic fluid.\nTyrosinaemia type I is caused by a deficiency of fumarylacetoacetate hydrolase and mainly affects the liver. This disease is characterized by the presence of a high level of succinylacetone. This metabolite has been used for prenatal diagnosis from amniotic fluid samples. One case with a normal level of succinylacetone in amniotic fluid has recently been described (Grenier et al., 1996). Here, we report that this patient is a compound heterozygote for two known mutations: E364X and IVS6-1g--\u003et. The low level of succinylacetone cannot be explained by these mutations."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":149,"end":178},"obj":"gene:2184"},{"id":"T1","span":{"begin":100,"end":119},"obj":"disease:C0268490"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Genotyping of a case of tyrosinaemia type I with normal level of succinylacetone in amniotic fluid.\nTyrosinaemia type I is caused by a deficiency of fumarylacetoacetate hydrolase and mainly affects the liver. This disease is characterized by the presence of a high level of succinylacetone. This metabolite has been used for prenatal diagnosis from amniotic fluid samples. One case with a normal level of succinylacetone in amniotic fluid has recently been described (Grenier et al., 1996). Here, we report that this patient is a compound heterozygote for two known mutations: E364X and IVS6-1g--\u003et. The low level of succinylacetone cannot be explained by these mutations."}