| http://purl.uniprot.org/citations/8445615 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8445615 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8445615 | http://www.w3.org/2000/01/rdf-schema#comment | "We have identified two new point mutations in the beta-hexosaminidase alpha subunit (HEX A) gene in a non-Jewish Tay-Sachs disease patient with an unusual late infantile onset disease phenotype. The patient was a compound heterozygote with each allele of the HEX A gene containing a different mutation in exon 1. One of these is a T to C transition in the initiation codon, expected to produce no alpha subunit and therefore a classical infantile phenotype. The unusual clinical aspects and later onset in the patient must therefore be a result of residual hexosaminidase A activity associated with a mutant alpha subunit containing the second mutation, substitution of serine for proline at amino acid 25 owing to a C to T change at nucleotide 73. Western blotting and DE-52 ion exchange chromatography have been used to examine the behaviour of this mutant alpha subunit."xsd:string |
| http://purl.uniprot.org/citations/8445615 | http://purl.org/dc/terms/identifier | "doi:10.1136/jmg.30.2.123"xsd:string |
| http://purl.uniprot.org/citations/8445615 | http://purl.org/dc/terms/identifier | "doi:10.1136/jmg.30.2.123"xsd:string |
| http://purl.uniprot.org/citations/8445615 | http://purl.uniprot.org/core/author | "Gardner-Medwin D."xsd:string |
| http://purl.uniprot.org/citations/8445615 | http://purl.uniprot.org/core/author | "Gardner-Medwin D."xsd:string |
| http://purl.uniprot.org/citations/8445615 | http://purl.uniprot.org/core/author | "Harmon D.L."xsd:string |
| http://purl.uniprot.org/citations/8445615 | http://purl.uniprot.org/core/author | "Harmon D.L."xsd:string |
| http://purl.uniprot.org/citations/8445615 | http://purl.uniprot.org/core/author | "Stirling J.L."xsd:string |
| http://purl.uniprot.org/citations/8445615 | http://purl.uniprot.org/core/author | "Stirling J.L."xsd:string |
| http://purl.uniprot.org/citations/8445615 | http://purl.uniprot.org/core/date | "1993"xsd:gYear |
| http://purl.uniprot.org/citations/8445615 | http://purl.uniprot.org/core/date | "1993"xsd:gYear |
| http://purl.uniprot.org/citations/8445615 | http://purl.uniprot.org/core/name | "J. Med. Genet."xsd:string |
| http://purl.uniprot.org/citations/8445615 | http://purl.uniprot.org/core/name | "J. Med. Genet."xsd:string |
| http://purl.uniprot.org/citations/8445615 | http://purl.uniprot.org/core/pages | "123-128"xsd:string |
| http://purl.uniprot.org/citations/8445615 | http://purl.uniprot.org/core/pages | "123-128"xsd:string |
| http://purl.uniprot.org/citations/8445615 | http://purl.uniprot.org/core/title | "Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene."xsd:string |
| http://purl.uniprot.org/citations/8445615 | http://purl.uniprot.org/core/title | "Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene."xsd:string |
| http://purl.uniprot.org/citations/8445615 | http://purl.uniprot.org/core/volume | "30"xsd:string |
| http://purl.uniprot.org/citations/8445615 | http://purl.uniprot.org/core/volume | "30"xsd:string |
| http://purl.uniprot.org/citations/8445615 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/8445615 |
| http://purl.uniprot.org/citations/8445615 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/8445615 |
| http://purl.uniprot.org/citations/8445615 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/8445615 |
| http://purl.uniprot.org/citations/8445615 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/8445615 |