| http://purl.uniprot.org/citations/9754819 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9754819 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9754819 | http://www.w3.org/2000/01/rdf-schema#comment | "Maturity-onset diabetes of the young (MODY) is a heterogeneous subtype of non-insulin-dependent diabetes mellitus characterised by early onset, autosomal dominant inheritance and a primary defect in insulin secretion. To date five MODY genes have been identified: hepatocyte nuclear factor-4 alpha (HNF-4alpha/MODY1/TCF14) on chromosome 20q, glucokinase (GCK/MODY2) on chromosome 7p, hepatocyte nuclear factor-1 alpha (HNF-1alpha/MODY3/TCF1) on chromosome 12q, insulin promoter factor-1 (IPF1/MODY4) on chromosome 13q and hepatocyte nuclear factor-1 beta (HNF-1beta/MODY5/TCF2) on chromosome 17cen-q. We have screened the HNF-4alpha, HNF-1alpha and HNF-1beta genes in members of 18 MODY kindreds who tested negative for glucokinase mutations. Five missense (G31D, R159W, A161T, R200W, R271W), one substitution at the splice donor site of intron 5 (IVS5nt + 2T-->A) and one deletion mutation (P379fsdelT) were found in the HNF-1alpha gene, but no MODY-associated mutations were found in the HNF-4alpha and HNF-1beta genes. Of 67 French MODY families that we have now studied, 42 (63%) have mutations in the glucokinase gene, 14 (21%) have mutations in the HNF-1alpha gene, and 11 (16%) have no mutations in the HNF-4alpha, IPF1 and HNF-1beta genes. Eleven families do not have mutations in the five known MODY genes suggesting that there is at least one additional locus that can cause MODY."xsd:string |
| http://purl.uniprot.org/citations/9754819 | http://purl.org/dc/terms/identifier | "doi:10.1007/s001250051025"xsd:string |
| http://purl.uniprot.org/citations/9754819 | http://purl.org/dc/terms/identifier | "doi:10.1007/s001250051025"xsd:string |
| http://purl.uniprot.org/citations/9754819 | http://purl.uniprot.org/core/author | "Vaxillaire M."xsd:string |
| http://purl.uniprot.org/citations/9754819 | http://purl.uniprot.org/core/author | "Vaxillaire M."xsd:string |
| http://purl.uniprot.org/citations/9754819 | http://purl.uniprot.org/core/author | "Bellanne-Chantelot C."xsd:string |
| http://purl.uniprot.org/citations/9754819 | http://purl.uniprot.org/core/author | "Bellanne-Chantelot C."xsd:string |
| http://purl.uniprot.org/citations/9754819 | http://purl.uniprot.org/core/author | "Froguel P."xsd:string |
| http://purl.uniprot.org/citations/9754819 | http://purl.uniprot.org/core/author | "Froguel P."xsd:string |
| http://purl.uniprot.org/citations/9754819 | http://purl.uniprot.org/core/author | "Blanche H."xsd:string |
| http://purl.uniprot.org/citations/9754819 | http://purl.uniprot.org/core/author | "Blanche H."xsd:string |
| http://purl.uniprot.org/citations/9754819 | http://purl.uniprot.org/core/author | "Charpentier G."xsd:string |
| http://purl.uniprot.org/citations/9754819 | http://purl.uniprot.org/core/author | "Charpentier G."xsd:string |
| http://purl.uniprot.org/citations/9754819 | http://purl.uniprot.org/core/author | "Boutin P."xsd:string |
| http://purl.uniprot.org/citations/9754819 | http://purl.uniprot.org/core/author | "Boutin P."xsd:string |
| http://purl.uniprot.org/citations/9754819 | http://purl.uniprot.org/core/author | "Maes M."xsd:string |
| http://purl.uniprot.org/citations/9754819 | http://purl.uniprot.org/core/author | "Maes M."xsd:string |
| http://purl.uniprot.org/citations/9754819 | http://purl.uniprot.org/core/author | "Chevre J.-C."xsd:string |
| http://purl.uniprot.org/citations/9754819 | http://purl.uniprot.org/core/author | "Chevre J.-C."xsd:string |
| http://purl.uniprot.org/citations/9754819 | http://purl.uniprot.org/core/author | "Hani E.H."xsd:string |
| http://purl.uniprot.org/citations/9754819 | http://purl.uniprot.org/core/author | "Hani E.H."xsd:string |
| http://purl.uniprot.org/citations/9754819 | http://purl.uniprot.org/core/author | "Vionnet N."xsd:string |
| http://purl.uniprot.org/citations/9754819 | http://purl.uniprot.org/core/author | "Vionnet N."xsd:string |