| http://purl.uniprot.org/citations/18930675 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18930675 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutations in HEXB, encoding the beta-subunit common to hexosaminidases A and B, cause the neurodegenerative condition, Sandhoff disease. A homozygous missense HEXB mutation (p. D459A) was discovered in six patients with a rare juvenile variant: we show that this disrupts a salt bridge between aspartate D459 and arginine 505 at the subunit interface; R505 mutations are reported in late-onset Sandhoff disease. Identification of D459A contributes to diagnosis and molecular understanding of attenuated Sandhoff disease variants."xsd:string |
| http://purl.uniprot.org/citations/18930675 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ymgme.2008.08.007"xsd:string |
| http://purl.uniprot.org/citations/18930675 | http://purl.uniprot.org/core/author | "Wang S.Z."xsd:string |
| http://purl.uniprot.org/citations/18930675 | http://purl.uniprot.org/core/author | "Cox T.M."xsd:string |
| http://purl.uniprot.org/citations/18930675 | http://purl.uniprot.org/core/author | "Stein P.E."xsd:string |
| http://purl.uniprot.org/citations/18930675 | http://purl.uniprot.org/core/author | "Cachon-Gonzalez M.B."xsd:string |
| http://purl.uniprot.org/citations/18930675 | http://purl.uniprot.org/core/author | "Wraith J.E."xsd:string |
| http://purl.uniprot.org/citations/18930675 | http://purl.uniprot.org/core/author | "Lachmann R.H."xsd:string |
| http://purl.uniprot.org/citations/18930675 | http://purl.uniprot.org/core/author | "Corry P.C."xsd:string |
| http://purl.uniprot.org/citations/18930675 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |
| http://purl.uniprot.org/citations/18930675 | http://purl.uniprot.org/core/name | "Mol Genet Metab"xsd:string |
| http://purl.uniprot.org/citations/18930675 | http://purl.uniprot.org/core/pages | "236-238"xsd:string |
| http://purl.uniprot.org/citations/18930675 | http://purl.uniprot.org/core/title | "A novel HEXB mutation and its structural effects in juvenile Sandhoff disease."xsd:string |
| http://purl.uniprot.org/citations/18930675 | http://purl.uniprot.org/core/volume | "95"xsd:string |
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