| http://purl.uniprot.org/citations/30778173 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/30778173 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/30778173 | http://www.w3.org/2000/01/rdf-schema#comment | "Hexokinase 1 (HK1) phosphorylates glucose to glucose-6-phosphate, the first rate-limiting step in glycolysis. Homozygous and heterozygous variants in HK1 have been shown to cause autosomal recessive non-spherocytic hemolytic anemia, autosomal recessive Russe type hereditary motor and sensory neuropathy, and autosomal dominant retinitis pigmentosa (adRP). We report seven patients from six unrelated families with a neurodevelopmental disorder associated with developmental delay, intellectual disability, structural brain abnormality, and visual impairments in whom we identified four novel, de novo missense variants in the N-terminal half of HK1. Hexokinase activity in red blood cells of two patients was normal, suggesting that the disease mechanism is not due to loss of hexokinase enzymatic activity."xsd:string |
| http://purl.uniprot.org/citations/30778173 | http://purl.org/dc/terms/identifier | "doi:10.1038/s41431-019-0366-9"xsd:string |
| http://purl.uniprot.org/citations/30778173 | http://purl.org/dc/terms/identifier | "doi:10.1038/s41431-019-0366-9"xsd:string |
| http://purl.uniprot.org/citations/30778173 | http://purl.uniprot.org/core/author | "Pierce E."xsd:string |
| http://purl.uniprot.org/citations/30778173 | http://purl.uniprot.org/core/author | "Pierce E."xsd:string |
| http://purl.uniprot.org/citations/30778173 | http://purl.uniprot.org/core/author | "Monaghan K.G."xsd:string |
| http://purl.uniprot.org/citations/30778173 | http://purl.uniprot.org/core/author | "Monaghan K.G."xsd:string |
| http://purl.uniprot.org/citations/30778173 | http://purl.uniprot.org/core/author | "Wilson A."xsd:string |
| http://purl.uniprot.org/citations/30778173 | http://purl.uniprot.org/core/author | "Wilson A."xsd:string |
| http://purl.uniprot.org/citations/30778173 | http://purl.uniprot.org/core/author | "Anyane-Yeboa K."xsd:string |
| http://purl.uniprot.org/citations/30778173 | http://purl.uniprot.org/core/author | "Anyane-Yeboa K."xsd:string |
| http://purl.uniprot.org/citations/30778173 | http://purl.uniprot.org/core/author | "Begtrup A."xsd:string |
| http://purl.uniprot.org/citations/30778173 | http://purl.uniprot.org/core/author | "Begtrup A."xsd:string |
| http://purl.uniprot.org/citations/30778173 | http://purl.uniprot.org/core/author | "Cho M.T."xsd:string |
| http://purl.uniprot.org/citations/30778173 | http://purl.uniprot.org/core/author | "Cho M.T."xsd:string |
| http://purl.uniprot.org/citations/30778173 | http://purl.uniprot.org/core/author | "Chung W.K."xsd:string |
| http://purl.uniprot.org/citations/30778173 | http://purl.uniprot.org/core/author | "Chung W.K."xsd:string |
| http://purl.uniprot.org/citations/30778173 | http://purl.uniprot.org/core/author | "Douglas G."xsd:string |
| http://purl.uniprot.org/citations/30778173 | http://purl.uniprot.org/core/author | "Douglas G."xsd:string |
| http://purl.uniprot.org/citations/30778173 | http://purl.uniprot.org/core/author | "Retterer K."xsd:string |
| http://purl.uniprot.org/citations/30778173 | http://purl.uniprot.org/core/author | "Retterer K."xsd:string |
| http://purl.uniprot.org/citations/30778173 | http://purl.uniprot.org/core/author | "Telegrafi A."xsd:string |
| http://purl.uniprot.org/citations/30778173 | http://purl.uniprot.org/core/author | "Telegrafi A."xsd:string |