http://purl.uniprot.org/citations/10627140 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/10627140 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/10627140 | http://www.w3.org/2000/01/rdf-schema#comment | "In this paper we report a male infant heterozygous for thalassemia with a mild glucose 6 phosphate dehydrogenase deficiency. The molecular basis of this new Class III G6PD variant is a G-->T mutation at nucleotide 34 in the exon 2, which predicts a Val-->Leu aminoacid substitution at codon 12. We designated this variant as G6PD Sinnai from the place of birth of the propositus."xsd:string |
http://purl.uniprot.org/citations/10627140 | http://purl.org/dc/terms/identifier | "doi:10.1002/(sici)1098-1004(1998)12:1<72::aid-humu19>3.0.co;2-t"xsd:string |
http://purl.uniprot.org/citations/10627140 | http://purl.org/dc/terms/identifier | "doi:10.1002/(sici)1098-1004(1998)12:1<72::aid-humu19>3.0.co;2-t"xsd:string |
http://purl.uniprot.org/citations/10627140 | http://purl.uniprot.org/core/author | "Cao A."xsd:string |
http://purl.uniprot.org/citations/10627140 | http://purl.uniprot.org/core/author | "Cao A."xsd:string |
http://purl.uniprot.org/citations/10627140 | http://purl.uniprot.org/core/author | "Dessi S."xsd:string |
http://purl.uniprot.org/citations/10627140 | http://purl.uniprot.org/core/author | "Dessi S."xsd:string |
http://purl.uniprot.org/citations/10627140 | http://purl.uniprot.org/core/author | "Galanello R."xsd:string |
http://purl.uniprot.org/citations/10627140 | http://purl.uniprot.org/core/author | "Galanello R."xsd:string |
http://purl.uniprot.org/citations/10627140 | http://purl.uniprot.org/core/author | "Loi D."xsd:string |
http://purl.uniprot.org/citations/10627140 | http://purl.uniprot.org/core/author | "Loi D."xsd:string |
http://purl.uniprot.org/citations/10627140 | http://purl.uniprot.org/core/author | "Melis M.A."xsd:string |
http://purl.uniprot.org/citations/10627140 | http://purl.uniprot.org/core/author | "Melis M.A."xsd:string |
http://purl.uniprot.org/citations/10627140 | http://purl.uniprot.org/core/author | "Sollaino C."xsd:string |
http://purl.uniprot.org/citations/10627140 | http://purl.uniprot.org/core/author | "Sollaino C."xsd:string |
http://purl.uniprot.org/citations/10627140 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
http://purl.uniprot.org/citations/10627140 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
http://purl.uniprot.org/citations/10627140 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
http://purl.uniprot.org/citations/10627140 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
http://purl.uniprot.org/citations/10627140 | http://purl.uniprot.org/core/pages | "72-73"xsd:string |
http://purl.uniprot.org/citations/10627140 | http://purl.uniprot.org/core/pages | "72-73"xsd:string |
http://purl.uniprot.org/citations/10627140 | http://purl.uniprot.org/core/title | "A new glucose 6 phosphate dehydrogenase variant, G6PD Sinnai (34 G->T)."xsd:string |
http://purl.uniprot.org/citations/10627140 | http://purl.uniprot.org/core/title | "A new glucose 6 phosphate dehydrogenase variant, G6PD Sinnai (34 G->T)."xsd:string |