| http://purl.uniprot.org/citations/10995508 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10995508 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10995508 | http://www.w3.org/2000/01/rdf-schema#comment | "We report the clinical and molecular data of 16 patients with RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) with varying phenotypic severity, for which we have identified mutations in both alleles. RSH/SLOS is an autosomal recessive malformation syndrome caused by mutations in the gene encoding the sterol Delta(7)-reductase. This protein catalyzes the reduction of 7-dehydrocholesterol to cholesterol in the last step of cholesterol biosynthesis via the Kandutsch-Russell pathway. In addition to previously reported mutations (T93M, L109P, G147D, W151X, T154M, R242C, A247V, T289I, IVS8-1G-->C, Y408H, and E448K), we have identified six previously undescribed mutations (321G-->C, W177R, R242H, Y318N, L341P, and C444Y). We also report rapid polymerase chain reaction (PCR)-based assays developed to detect four of the recurring mutations (T93M, W151X, V326L, and R404C) and six other RSH/SLOS mutations (321G-->C, L109P, T154M, T289I, Y318N, and L341P). The purpose of this article is to correlate detailed clinical information with molecular data in order to improve our understanding of the genotype-phenotype correlation of RSH/SLOS and to report the development of PCR-based assays that will allow more rapid mutation analysis."xsd:string |
| http://purl.uniprot.org/citations/10995508 | http://purl.org/dc/terms/identifier | "doi:10.1002/1096-8628(20000918)94:3<214::aid-ajmg7>3.3.co;2-i"xsd:string |
| http://purl.uniprot.org/citations/10995508 | http://purl.org/dc/terms/identifier | "doi:10.1002/1096-8628(20000918)94:3<214::aid-ajmg7>3.3.co;2-i"xsd:string |
| http://purl.uniprot.org/citations/10995508 | http://purl.uniprot.org/core/author | "Battaile K.P."xsd:string |
| http://purl.uniprot.org/citations/10995508 | http://purl.uniprot.org/core/author | "Battaile K.P."xsd:string |
| http://purl.uniprot.org/citations/10995508 | http://purl.uniprot.org/core/author | "Steiner R.D."xsd:string |
| http://purl.uniprot.org/citations/10995508 | http://purl.uniprot.org/core/author | "Steiner R.D."xsd:string |
| http://purl.uniprot.org/citations/10995508 | http://purl.uniprot.org/core/author | "Connor W.E."xsd:string |
| http://purl.uniprot.org/citations/10995508 | http://purl.uniprot.org/core/author | "Connor W.E."xsd:string |
| http://purl.uniprot.org/citations/10995508 | http://purl.uniprot.org/core/author | "Krakowiak P.A."xsd:string |
| http://purl.uniprot.org/citations/10995508 | http://purl.uniprot.org/core/author | "Krakowiak P.A."xsd:string |
| http://purl.uniprot.org/citations/10995508 | http://purl.uniprot.org/core/author | "Maslen C."xsd:string |
| http://purl.uniprot.org/citations/10995508 | http://purl.uniprot.org/core/author | "Maslen C."xsd:string |
| http://purl.uniprot.org/citations/10995508 | http://purl.uniprot.org/core/author | "Nowaczyk M.J.M."xsd:string |
| http://purl.uniprot.org/citations/10995508 | http://purl.uniprot.org/core/author | "Nowaczyk M.J.M."xsd:string |
| http://purl.uniprot.org/citations/10995508 | http://purl.uniprot.org/core/author | "Nwokoro N.A."xsd:string |
| http://purl.uniprot.org/citations/10995508 | http://purl.uniprot.org/core/author | "Nwokoro N.A."xsd:string |
| http://purl.uniprot.org/citations/10995508 | http://purl.uniprot.org/core/author | "Porter F.D."xsd:string |
| http://purl.uniprot.org/citations/10995508 | http://purl.uniprot.org/core/author | "Porter F.D."xsd:string |
| http://purl.uniprot.org/citations/10995508 | http://purl.uniprot.org/core/author | "Wassif C.A."xsd:string |
| http://purl.uniprot.org/citations/10995508 | http://purl.uniprot.org/core/author | "Wassif C.A."xsd:string |
| http://purl.uniprot.org/citations/10995508 | http://purl.uniprot.org/core/date | "2000"xsd:gYear |
| http://purl.uniprot.org/citations/10995508 | http://purl.uniprot.org/core/date | "2000"xsd:gYear |