| http://purl.uniprot.org/citations/10206684 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10206684 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10206684 | http://www.w3.org/2000/01/rdf-schema#comment | "The autosomal recessive disorder Glycogen Storage Type II (GSDII) is caused by a deficiency in the lysosomal enzyme acid alpha-glucosidase. We have optimised a procedure to use fluorescent DNA sequencing technology to screen for mutations within the alpha-glucosidase gene from UK patients with GSDII. Five previously unknown mutations in six patients (4 early onset infantile and 2 late adult) have been found. The mutations are an insertion of a C residue in exon 2 (InsC258), an insertion of a G residue in exon 16 (InsG2242), a deletion of 20 nucleotides in exon 4 delta, and a nonsense mutation in exon 16 (G2237A-Trp746Stop). All will result in the introduction of a premature stop codon in the coding region, predicting a truncated and non-functional protein. The final mutation is a duplication of 18 nucleotides in exon 19 (Ins18nt2776) and will result in the insertion of an additional six amino acids into the protein chain after Asn925 (Gly-Val-Pro-Val-Ser-Asn)."xsd:string |
| http://purl.uniprot.org/citations/10206684 | http://purl.org/dc/terms/identifier | "doi:10.1002/(sici)1098-1004(1998)11:5<413::aid-humu16>3.0.co;2-i"xsd:string |
| http://purl.uniprot.org/citations/10206684 | http://purl.org/dc/terms/identifier | "doi:10.1002/(sici)1098-1004(1998)11:5<413::aid-humu16>3.0.co;2-i"xsd:string |
| http://purl.uniprot.org/citations/10206684 | http://purl.uniprot.org/core/author | "Beesley C.E."xsd:string |
| http://purl.uniprot.org/citations/10206684 | http://purl.uniprot.org/core/author | "Beesley C.E."xsd:string |
| http://purl.uniprot.org/citations/10206684 | http://purl.uniprot.org/core/author | "Child A.H."xsd:string |
| http://purl.uniprot.org/citations/10206684 | http://purl.uniprot.org/core/author | "Child A.H."xsd:string |
| http://purl.uniprot.org/citations/10206684 | http://purl.uniprot.org/core/author | "Yacoub M.Y."xsd:string |
| http://purl.uniprot.org/citations/10206684 | http://purl.uniprot.org/core/author | "Yacoub M.Y."xsd:string |
| http://purl.uniprot.org/citations/10206684 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/10206684 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/10206684 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/10206684 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/10206684 | http://purl.uniprot.org/core/pages | "413"xsd:string |
| http://purl.uniprot.org/citations/10206684 | http://purl.uniprot.org/core/pages | "413"xsd:string |
| http://purl.uniprot.org/citations/10206684 | http://purl.uniprot.org/core/title | "The identification of five novel mutations in the lysosomal acid alpha-(1,4) glucosidase gene from patients with glycogen storage disease type II."xsd:string |
| http://purl.uniprot.org/citations/10206684 | http://purl.uniprot.org/core/title | "The identification of five novel mutations in the lysosomal acid alpha-(1,4) glucosidase gene from patients with glycogen storage disease type II."xsd:string |
| http://purl.uniprot.org/citations/10206684 | http://purl.uniprot.org/core/volume | "11"xsd:string |
| http://purl.uniprot.org/citations/10206684 | http://purl.uniprot.org/core/volume | "11"xsd:string |
| http://purl.uniprot.org/citations/10206684 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/10206684 |
| http://purl.uniprot.org/citations/10206684 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/10206684 |
| http://purl.uniprot.org/citations/10206684 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/10206684 |
| http://purl.uniprot.org/citations/10206684 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/10206684 |