| http://purl.uniprot.org/citations/18677765 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18677765 | http://www.w3.org/2000/01/rdf-schema#comment | "Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an important cause of hemolytic anemia worldwide. Severely affected patients have chronic hemolysis with exacerbations following oxidative stress. Mutations causing severe chronic non-spherocytic hemolytic anemia (CNSHA) commonly cluster in Exon 10, a region important for protein dimerization. An African-American male presented at age 2 weeks with pallor and jaundice, and was found to have hemolytic anemia with G6PD deficiency. His severe clinical course was inconsistent with the expected G6PD A(-) variant. DNA sequencing revealed two common mutations (A(-)) and a third novel Exon 10 mutation. This inherited haplotype represents a novel triple G6PD coding mutation causing chronic hemolysis."xsd:string |
| http://purl.uniprot.org/citations/18677765 | http://purl.org/dc/terms/identifier | "doi:10.1002/pbc.21715"xsd:string |
| http://purl.uniprot.org/citations/18677765 | http://purl.uniprot.org/core/author | "Ware R.E."xsd:string |
| http://purl.uniprot.org/citations/18677765 | http://purl.uniprot.org/core/author | "Howard T."xsd:string |
| http://purl.uniprot.org/citations/18677765 | http://purl.uniprot.org/core/author | "Abramova T."xsd:string |
| http://purl.uniprot.org/citations/18677765 | http://purl.uniprot.org/core/author | "McDade J."xsd:string |
| http://purl.uniprot.org/citations/18677765 | http://purl.uniprot.org/core/author | "Mortier N."xsd:string |
| http://purl.uniprot.org/citations/18677765 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |
| http://purl.uniprot.org/citations/18677765 | http://purl.uniprot.org/core/name | "Pediatr Blood Cancer"xsd:string |
| http://purl.uniprot.org/citations/18677765 | http://purl.uniprot.org/core/pages | "816-819"xsd:string |
| http://purl.uniprot.org/citations/18677765 | http://purl.uniprot.org/core/title | "A novel G6PD mutation leading to chronic hemolytic anemia."xsd:string |
| http://purl.uniprot.org/citations/18677765 | http://purl.uniprot.org/core/volume | "51"xsd:string |
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