| http://purl.uniprot.org/citations/16406649 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16406649 | http://www.w3.org/2000/01/rdf-schema#comment | "We studied 28 Polish hereditary fructose intolerant (HFI) patients (26 unrelated) by direct sequencing of the ALDOB coding region/splice sites. Eight different mutations were found including two novel ones (each found in two unrelated individuals): c.250delC (frameshift) and c.522 C > G (p.Y174X). The most frequent mutation c.448 G > C (p.A150P, 67% of chromosomes) was screened for in a group of 1049 randomly selected unrelated individuals. Eight (1:131) carriers were found allowing to estimate the HFI prevalence in Poland as 1:31,000."xsd:string |
| http://purl.uniprot.org/citations/16406649 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ymgme.2005.11.010"xsd:string |
| http://purl.uniprot.org/citations/16406649 | http://purl.uniprot.org/core/author | "Pronicka E."xsd:string |
| http://purl.uniprot.org/citations/16406649 | http://purl.uniprot.org/core/author | "Ploski R."xsd:string |
| http://purl.uniprot.org/citations/16406649 | http://purl.uniprot.org/core/author | "Pollak A."xsd:string |
| http://purl.uniprot.org/citations/16406649 | http://purl.uniprot.org/core/author | "Gruchota J."xsd:string |
| http://purl.uniprot.org/citations/16406649 | http://purl.uniprot.org/core/author | "Korniszewski L."xsd:string |
| http://purl.uniprot.org/citations/16406649 | http://purl.uniprot.org/core/author | "Stolarski B."xsd:string |
| http://purl.uniprot.org/citations/16406649 | http://purl.uniprot.org/core/author | "Rogaszewska M."xsd:string |
| http://purl.uniprot.org/citations/16406649 | http://purl.uniprot.org/core/date | "2006"xsd:gYear |
| http://purl.uniprot.org/citations/16406649 | http://purl.uniprot.org/core/name | "Mol Genet Metab"xsd:string |
| http://purl.uniprot.org/citations/16406649 | http://purl.uniprot.org/core/pages | "376-378"xsd:string |
| http://purl.uniprot.org/citations/16406649 | http://purl.uniprot.org/core/title | "Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population."xsd:string |
| http://purl.uniprot.org/citations/16406649 | http://purl.uniprot.org/core/volume | "87"xsd:string |
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