| http://purl.uniprot.org/citations/23298686 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23298686 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23298686 | http://www.w3.org/2000/01/rdf-schema#comment | "The deficiency of ubiquitously expressed glucose-6-phosphatase (G6PC3) enzyme is known to result in a syndrome characterized by severe congenital neutropenia, prominent superficial venous pattern, congenital heart defects and genito-urinary malformations. Here, we describe four patients from three families with non-syndromic severe congenital neutropenia and identify four G6PC3 mutations as causative in these cases. Thus we demonstrate that G6PC3 mutations also result in a non-syndromic form of severe congenital neutropenia. We propose that G6PC3 deficiency should be considered as part of the differential diagnoses in any patient with unexplained congenital neutropenia. Additionally, we show a relationship between the genotype and non-hematological phenotype of G6PC3 deficiency. These findings may provide an insight into the role of the G6PC3 enzyme and glucose metabolism in developmental pathways."xsd:string |
| http://purl.uniprot.org/citations/23298686 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ymgme.2012.12.001"xsd:string |
| http://purl.uniprot.org/citations/23298686 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ymgme.2012.12.001"xsd:string |
| http://purl.uniprot.org/citations/23298686 | http://purl.uniprot.org/core/author | "Newman W.G."xsd:string |
| http://purl.uniprot.org/citations/23298686 | http://purl.uniprot.org/core/author | "Newman W.G."xsd:string |
| http://purl.uniprot.org/citations/23298686 | http://purl.uniprot.org/core/author | "Banka S."xsd:string |
| http://purl.uniprot.org/citations/23298686 | http://purl.uniprot.org/core/author | "Banka S."xsd:string |
| http://purl.uniprot.org/citations/23298686 | http://purl.uniprot.org/core/author | "Wynn R."xsd:string |
| http://purl.uniprot.org/citations/23298686 | http://purl.uniprot.org/core/author | "Wynn R."xsd:string |
| http://purl.uniprot.org/citations/23298686 | http://purl.uniprot.org/core/author | "Arkwright P.D."xsd:string |
| http://purl.uniprot.org/citations/23298686 | http://purl.uniprot.org/core/author | "Arkwright P.D."xsd:string |
| http://purl.uniprot.org/citations/23298686 | http://purl.uniprot.org/core/author | "Byers H."xsd:string |
| http://purl.uniprot.org/citations/23298686 | http://purl.uniprot.org/core/author | "Byers H."xsd:string |
| http://purl.uniprot.org/citations/23298686 | http://purl.uniprot.org/core/date | "2013"xsd:gYear |
| http://purl.uniprot.org/citations/23298686 | http://purl.uniprot.org/core/date | "2013"xsd:gYear |
| http://purl.uniprot.org/citations/23298686 | http://purl.uniprot.org/core/name | "Mol. Genet. Metab."xsd:string |
| http://purl.uniprot.org/citations/23298686 | http://purl.uniprot.org/core/name | "Mol. Genet. Metab."xsd:string |
| http://purl.uniprot.org/citations/23298686 | http://purl.uniprot.org/core/pages | "138-141"xsd:string |
| http://purl.uniprot.org/citations/23298686 | http://purl.uniprot.org/core/pages | "138-141"xsd:string |
| http://purl.uniprot.org/citations/23298686 | http://purl.uniprot.org/core/title | "G6PC3 mutations cause non-syndromic severe congenital neutropenia."xsd:string |
| http://purl.uniprot.org/citations/23298686 | http://purl.uniprot.org/core/title | "G6PC3 mutations cause non-syndromic severe congenital neutropenia."xsd:string |
| http://purl.uniprot.org/citations/23298686 | http://purl.uniprot.org/core/volume | "108"xsd:string |
| http://purl.uniprot.org/citations/23298686 | http://purl.uniprot.org/core/volume | "108"xsd:string |