| http://purl.uniprot.org/citations/8900228 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8900228 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8900228 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutation analysis was performed in eight families (16 patients) with glutaric aciduria type I (GA-I), which were all the families diagnosed in Israel in the years 1987-1994. Six families were of Moslem origin and two were non-Ashkenazi Jews. The entire coding region of the cDNA of the glutaryl-CoA dehydrogenase gene was sequenced in one patient of each family. Seven new mutations were identified in 15 of 16 mutated alleles, including six point mutations: T416I (4 alleles), G390R (1 allele), and S305L, A293T, L283P, and G1O1R (2 alleles each). In addition, a 1-bp deletion at position 1173 was identified in two alleles. These findings do not provide a molecular basis for the clinical variability in GA-I families. The occurrence of multiple novel mutations in a small geographic area may be explained by their recent onset in isolated communities with a high consanguinity rate."xsd:string |
| http://purl.uniprot.org/citations/8900228 | http://purl.uniprot.org/core/author | "Christensen E."xsd:string |
| http://purl.uniprot.org/citations/8900228 | http://purl.uniprot.org/core/author | "Christensen E."xsd:string |
| http://purl.uniprot.org/citations/8900228 | http://purl.uniprot.org/core/author | "Shaag A."xsd:string |
| http://purl.uniprot.org/citations/8900228 | http://purl.uniprot.org/core/author | "Shaag A."xsd:string |
| http://purl.uniprot.org/citations/8900228 | http://purl.uniprot.org/core/author | "Anikster Y."xsd:string |
| http://purl.uniprot.org/citations/8900228 | http://purl.uniprot.org/core/author | "Anikster Y."xsd:string |
| http://purl.uniprot.org/citations/8900228 | http://purl.uniprot.org/core/author | "Elpeleg O.N."xsd:string |
| http://purl.uniprot.org/citations/8900228 | http://purl.uniprot.org/core/author | "Elpeleg O.N."xsd:string |
| http://purl.uniprot.org/citations/8900228 | http://purl.uniprot.org/core/author | "Mandel H."xsd:string |
| http://purl.uniprot.org/citations/8900228 | http://purl.uniprot.org/core/author | "Mandel H."xsd:string |
| http://purl.uniprot.org/citations/8900228 | http://purl.uniprot.org/core/author | "Joseph A."xsd:string |
| http://purl.uniprot.org/citations/8900228 | http://purl.uniprot.org/core/author | "Joseph A."xsd:string |
| http://purl.uniprot.org/citations/8900228 | http://purl.uniprot.org/core/author | "Ben-Zeev B."xsd:string |
| http://purl.uniprot.org/citations/8900228 | http://purl.uniprot.org/core/author | "Ben-Zeev B."xsd:string |
| http://purl.uniprot.org/citations/8900228 | http://purl.uniprot.org/core/date | "1996"xsd:gYear |
| http://purl.uniprot.org/citations/8900228 | http://purl.uniprot.org/core/date | "1996"xsd:gYear |
| http://purl.uniprot.org/citations/8900228 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/8900228 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/8900228 | http://purl.uniprot.org/core/pages | "1012-1018"xsd:string |
| http://purl.uniprot.org/citations/8900228 | http://purl.uniprot.org/core/pages | "1012-1018"xsd:string |
| http://purl.uniprot.org/citations/8900228 | http://purl.uniprot.org/core/title | "Glutaric aciduria type I in the Arab and Jewish communities in Israel."xsd:string |
| http://purl.uniprot.org/citations/8900228 | http://purl.uniprot.org/core/title | "Glutaric aciduria type I in the Arab and Jewish communities in Israel."xsd:string |