| http://purl.uniprot.org/citations/10215408 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10215408 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10215408 | http://www.w3.org/2000/01/rdf-schema#comment | "RT-PCR and direct sequence analyses were used to define mutations in the cystathionine beta-synthase (CBS) gene in two unrelated male patients with vitamin B6 nonresponsive homocystinuria. Both patients were compound heterozygotes for CBS alleles containing point mutations. One patient had a maternally derived G->A transition in the splice-donor site of intron 1, resulting in aberrant splicing of CBS mRNA. The other allele contained a missense mutation resulting in the previously reported E144K mutant CBS protein. The second patient had a maternally derived 4 bp insertion in exon 17, predicted to cause a CBS peptide of altered amino acid sequence. A 494G->A transition was found in exon 4 of the other allele, predicting a C165Y substitution. Expression of recombinant CBS protein, containing the C165Y mutation, had no detectable catalytic activity. Each mutation was confirmed in genomic DNA."xsd:string |
| http://purl.uniprot.org/citations/10215408 | http://purl.org/dc/terms/identifier | "doi:10.1002/(sici)1098-1004(1998)11:4<332::aid-humu16>3.0.co;2-p"xsd:string |
| http://purl.uniprot.org/citations/10215408 | http://purl.org/dc/terms/identifier | "doi:10.1002/(sici)1098-1004(1998)11:4<332::aid-humu16>3.0.co;2-p"xsd:string |
| http://purl.uniprot.org/citations/10215408 | http://purl.uniprot.org/core/author | "Cox A.J."xsd:string |
| http://purl.uniprot.org/citations/10215408 | http://purl.uniprot.org/core/author | "Cox A.J."xsd:string |
| http://purl.uniprot.org/citations/10215408 | http://purl.uniprot.org/core/author | "Kraus J.P."xsd:string |
| http://purl.uniprot.org/citations/10215408 | http://purl.uniprot.org/core/author | "Kraus J.P."xsd:string |
| http://purl.uniprot.org/citations/10215408 | http://purl.uniprot.org/core/author | "Dawson P.A."xsd:string |
| http://purl.uniprot.org/citations/10215408 | http://purl.uniprot.org/core/author | "Dawson P.A."xsd:string |
| http://purl.uniprot.org/citations/10215408 | http://purl.uniprot.org/core/author | "Dudman N.P."xsd:string |
| http://purl.uniprot.org/citations/10215408 | http://purl.uniprot.org/core/author | "Dudman N.P."xsd:string |
| http://purl.uniprot.org/citations/10215408 | http://purl.uniprot.org/core/author | "Emmerson B.T."xsd:string |
| http://purl.uniprot.org/citations/10215408 | http://purl.uniprot.org/core/author | "Emmerson B.T."xsd:string |
| http://purl.uniprot.org/citations/10215408 | http://purl.uniprot.org/core/author | "Gordon R.B."xsd:string |
| http://purl.uniprot.org/citations/10215408 | http://purl.uniprot.org/core/author | "Gordon R.B."xsd:string |
| http://purl.uniprot.org/citations/10215408 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/10215408 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/10215408 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/10215408 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/10215408 | http://purl.uniprot.org/core/pages | "332"xsd:string |
| http://purl.uniprot.org/citations/10215408 | http://purl.uniprot.org/core/pages | "332"xsd:string |
| http://purl.uniprot.org/citations/10215408 | http://purl.uniprot.org/core/title | "Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation, two missense mutations and an insertion in patients with homocystinuria."xsd:string |
| http://purl.uniprot.org/citations/10215408 | http://purl.uniprot.org/core/title | "Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation, two missense mutations and an insertion in patients with homocystinuria."xsd:string |