| http://purl.uniprot.org/citations/11479728 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11479728 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11479728 | http://www.w3.org/2000/01/rdf-schema#comment | "Holoprosencephaly (HPE) is genetically heterogeneous with four genes, SIX3, SHH, TGIF, and ZIC2 that have been identified to date and that are altered in 12% of patients. To analyze this prevalence in a South American population-based sample (57 HPE cases in 244,511 live and still births or 1 in 4300), we performed a mutational study of these genes in 30 unrelated children (26 newborns and 4 non-newborns) with HPE being ascertained by ECLAMC (Latin American Collaborative Study of Congenital Malformations). We identified three novel mutations: two were missense mutations of the SHH gene (Cys183-->Phe; His140-->Pro); the third mutation was a 2-bp deletion in the zinc-finger region of the ZIC2 gene. These molecular results explained 8% (2/26 newborn samples) of the HPE cases in this South American population-based sample, a proportion similar to our previously published data from a collection of cases."xsd:string |
| http://purl.uniprot.org/citations/11479728 | http://purl.org/dc/terms/identifier | "doi:10.1007/s004390100537"xsd:string |
| http://purl.uniprot.org/citations/11479728 | http://purl.org/dc/terms/identifier | "doi:10.1007/s004390100537"xsd:string |
| http://purl.uniprot.org/citations/11479728 | http://purl.uniprot.org/core/author | "Muenke M."xsd:string |
| http://purl.uniprot.org/citations/11479728 | http://purl.uniprot.org/core/author | "Muenke M."xsd:string |
| http://purl.uniprot.org/citations/11479728 | http://purl.uniprot.org/core/author | "Ming J.E."xsd:string |
| http://purl.uniprot.org/citations/11479728 | http://purl.uniprot.org/core/author | "Ming J.E."xsd:string |
| http://purl.uniprot.org/citations/11479728 | http://purl.uniprot.org/core/author | "Castilla E.E."xsd:string |
| http://purl.uniprot.org/citations/11479728 | http://purl.uniprot.org/core/author | "Castilla E.E."xsd:string |
| http://purl.uniprot.org/citations/11479728 | http://purl.uniprot.org/core/author | "Orioli I.M."xsd:string |
| http://purl.uniprot.org/citations/11479728 | http://purl.uniprot.org/core/author | "Orioli I.M."xsd:string |
| http://purl.uniprot.org/citations/11479728 | http://purl.uniprot.org/core/author | "Burle de Aguiar M.J."xsd:string |
| http://purl.uniprot.org/citations/11479728 | http://purl.uniprot.org/core/author | "Burle de Aguiar M.J."xsd:string |
| http://purl.uniprot.org/citations/11479728 | http://purl.uniprot.org/core/author | "Llerena J.C."xsd:string |
| http://purl.uniprot.org/citations/11479728 | http://purl.uniprot.org/core/author | "Llerena J.C."xsd:string |
| http://purl.uniprot.org/citations/11479728 | http://purl.uniprot.org/core/author | "Nazer J."xsd:string |
| http://purl.uniprot.org/citations/11479728 | http://purl.uniprot.org/core/author | "Nazer J."xsd:string |
| http://purl.uniprot.org/citations/11479728 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11479728 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11479728 | http://purl.uniprot.org/core/name | "Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/11479728 | http://purl.uniprot.org/core/name | "Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/11479728 | http://purl.uniprot.org/core/pages | "1-6"xsd:string |
| http://purl.uniprot.org/citations/11479728 | http://purl.uniprot.org/core/pages | "1-6"xsd:string |