| http://purl.uniprot.org/citations/7635485 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7635485 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7635485 | http://www.w3.org/2000/01/rdf-schema#comment | "Direct sequencing of the coding region of the cystathionine beta-synthase (CBS) gene in two homocystinuric patients revealed the presence of two novel missense mutations. The first mutation, a 1111G-->A transition, resulted in the substitution of the evolutionary conserved valine-371 by a methionine residue (V371M) and created a new NlaIII restriction site. The second mutation, a G-->A transition at base-pair 494, resulted in an amino acid change from cysteine to tyrosine (C165Y) and abolished a BsoFI restriction site. Both mutations were found in a compound heterozygous state with the previously described 833T-->C transition."xsd:string |
| http://purl.uniprot.org/citations/7635485 | http://purl.org/dc/terms/identifier | "doi:10.1007/bf00207394"xsd:string |
| http://purl.uniprot.org/citations/7635485 | http://purl.org/dc/terms/identifier | "doi:10.1007/bf00207394"xsd:string |
| http://purl.uniprot.org/citations/7635485 | http://purl.uniprot.org/core/author | "van Oost B.A."xsd:string |
| http://purl.uniprot.org/citations/7635485 | http://purl.uniprot.org/core/author | "van Oost B.A."xsd:string |
| http://purl.uniprot.org/citations/7635485 | http://purl.uniprot.org/core/author | "Kluijtmans L.A.J."xsd:string |
| http://purl.uniprot.org/citations/7635485 | http://purl.uniprot.org/core/author | "Kluijtmans L.A.J."xsd:string |
| http://purl.uniprot.org/citations/7635485 | http://purl.uniprot.org/core/author | "Blom H.J."xsd:string |
| http://purl.uniprot.org/citations/7635485 | http://purl.uniprot.org/core/author | "Blom H.J."xsd:string |
| http://purl.uniprot.org/citations/7635485 | http://purl.uniprot.org/core/author | "van den Heuvel L.P.W.J."xsd:string |
| http://purl.uniprot.org/citations/7635485 | http://purl.uniprot.org/core/author | "van den Heuvel L.P.W.J."xsd:string |
| http://purl.uniprot.org/citations/7635485 | http://purl.uniprot.org/core/author | "Trijbels F.J.M."xsd:string |
| http://purl.uniprot.org/citations/7635485 | http://purl.uniprot.org/core/author | "Trijbels F.J.M."xsd:string |
| http://purl.uniprot.org/citations/7635485 | http://purl.uniprot.org/core/author | "Boers G.H.J."xsd:string |
| http://purl.uniprot.org/citations/7635485 | http://purl.uniprot.org/core/author | "Boers G.H.J."xsd:string |
| http://purl.uniprot.org/citations/7635485 | http://purl.uniprot.org/core/date | "1995"xsd:gYear |
| http://purl.uniprot.org/citations/7635485 | http://purl.uniprot.org/core/date | "1995"xsd:gYear |
| http://purl.uniprot.org/citations/7635485 | http://purl.uniprot.org/core/name | "Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/7635485 | http://purl.uniprot.org/core/name | "Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/7635485 | http://purl.uniprot.org/core/pages | "249-250"xsd:string |
| http://purl.uniprot.org/citations/7635485 | http://purl.uniprot.org/core/pages | "249-250"xsd:string |
| http://purl.uniprot.org/citations/7635485 | http://purl.uniprot.org/core/title | "Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patients."xsd:string |
| http://purl.uniprot.org/citations/7635485 | http://purl.uniprot.org/core/title | "Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patients."xsd:string |