| http://purl.uniprot.org/citations/8803779 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8803779 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8803779 | http://www.w3.org/2000/01/rdf-schema#comment | "Fasting and post-methionine load plasma total homocysteine concentrations were investigated in the parents of two homocystinuric patients. Three genetic mutations in the cystathionine beta-synthase gene were found. In the patient of family 1, a frequent Caucasian mutation. T833C, was found on one allele, while the mutation on the other allele has not yet been defined. In the patient of family 2, a mutation C569T, recently described by Sperandeo and colleagues, was found on one allele, while a novel mutation, G346A, was characterized on the other allele. The frequent gene mutation T833C was detected in a heterozygous mother who, surprisingly, exhibited strictly normal fasting and post-methionine load homocysteinaemia. In contrast, in the other family, we found a novel mutation (G346A) in the mother located near Lys 119, the putative binding site of phosphopyridoxal phosphate. This mother exhibited increased fasting and post-methionine load homocysteinaemia. These observations could explain the conflicting results reported for vascular pathologies in parents of homocystinuric patients and direct the search for genetic mutations in these vascular pathologies."xsd:string |
| http://purl.uniprot.org/citations/8803779 | http://purl.org/dc/terms/identifier | "doi:10.1007/bf01799266"xsd:string |
| http://purl.uniprot.org/citations/8803779 | http://purl.org/dc/terms/identifier | "doi:10.1007/bf01799266"xsd:string |
| http://purl.uniprot.org/citations/8803779 | http://purl.uniprot.org/core/author | "Sebastio G."xsd:string |
| http://purl.uniprot.org/citations/8803779 | http://purl.uniprot.org/core/author | "Sebastio G."xsd:string |
| http://purl.uniprot.org/citations/8803779 | http://purl.uniprot.org/core/author | "Andria G."xsd:string |
| http://purl.uniprot.org/citations/8803779 | http://purl.uniprot.org/core/author | "Andria G."xsd:string |
| http://purl.uniprot.org/citations/8803779 | http://purl.uniprot.org/core/author | "Candito M."xsd:string |
| http://purl.uniprot.org/citations/8803779 | http://purl.uniprot.org/core/author | "Candito M."xsd:string |
| http://purl.uniprot.org/citations/8803779 | http://purl.uniprot.org/core/author | "Dellamonica P."xsd:string |
| http://purl.uniprot.org/citations/8803779 | http://purl.uniprot.org/core/author | "Dellamonica P."xsd:string |
| http://purl.uniprot.org/citations/8803779 | http://purl.uniprot.org/core/author | "Giudicelli H."xsd:string |
| http://purl.uniprot.org/citations/8803779 | http://purl.uniprot.org/core/author | "Giudicelli H."xsd:string |
| http://purl.uniprot.org/citations/8803779 | http://purl.uniprot.org/core/author | "Rolland M.O."xsd:string |
| http://purl.uniprot.org/citations/8803779 | http://purl.uniprot.org/core/author | "Rolland M.O."xsd:string |
| http://purl.uniprot.org/citations/8803779 | http://purl.uniprot.org/core/author | "Sperandeo M.P."xsd:string |
| http://purl.uniprot.org/citations/8803779 | http://purl.uniprot.org/core/author | "Sperandeo M.P."xsd:string |
| http://purl.uniprot.org/citations/8803779 | http://purl.uniprot.org/core/author | "Turc-Carel C."xsd:string |
| http://purl.uniprot.org/citations/8803779 | http://purl.uniprot.org/core/author | "Turc-Carel C."xsd:string |
| http://purl.uniprot.org/citations/8803779 | http://purl.uniprot.org/core/date | "1996"xsd:gYear |
| http://purl.uniprot.org/citations/8803779 | http://purl.uniprot.org/core/date | "1996"xsd:gYear |
| http://purl.uniprot.org/citations/8803779 | http://purl.uniprot.org/core/name | "J. Inherit. Metab. Dis."xsd:string |
| http://purl.uniprot.org/citations/8803779 | http://purl.uniprot.org/core/name | "J. Inherit. Metab. Dis."xsd:string |