| http://purl.uniprot.org/citations/11503168 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11503168 | http://www.w3.org/2000/01/rdf-schema#comment | "Smith-Lemli-Opitz syndrome (SLOS) is an inherited multiple malformation syndrome caused by enzymatic deficiency of 3beta-hydroxysterol-Delta(7)-reductase (DHCR7). SLOS is thought to be most common among European Caucasians, with an incidence of 1 in 20,000 to 1 in 30,000 births. To define the carrier rate and ethnic distribution of SLOS, we screened DNA samples from 2,978 unrelated individuals for the most common SLOS mutation (IVS8-1G-->C). Twenty-four heterozygotes of the IVS8-1G-->C mutation were detected in 2,978 individuals of European Caucasian and Black backgrounds. For European Caucasians, the carrier rate for SLOS may be as high as 1 in 30, suggesting an incidence of 1 in 1,700 to 1 in 13,400. This high number is supported by the recent observation of newborn and prenatal incidence of 1 in 22,000 in the Caucasian population. Ours is the first report of the IVS8-1G-->C mutation in persons of African ancestry. Published 2001 Wiley-Liss, Inc."xsd:string |
| http://purl.uniprot.org/citations/11503168 | http://purl.org/dc/terms/identifier | "doi:10.1002/ajmg.1441"xsd:string |
| http://purl.uniprot.org/citations/11503168 | http://purl.uniprot.org/core/author | "Nowaczyk M.J."xsd:string |
| http://purl.uniprot.org/citations/11503168 | http://purl.uniprot.org/core/author | "Eng B."xsd:string |
| http://purl.uniprot.org/citations/11503168 | http://purl.uniprot.org/core/author | "Waye J.S."xsd:string |
| http://purl.uniprot.org/citations/11503168 | http://purl.uniprot.org/core/author | "Nakamura L.M."xsd:string |
| http://purl.uniprot.org/citations/11503168 | http://purl.uniprot.org/core/author | "Porter F.D."xsd:string |
| http://purl.uniprot.org/citations/11503168 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11503168 | http://purl.uniprot.org/core/name | "Am J Med Genet"xsd:string |
| http://purl.uniprot.org/citations/11503168 | http://purl.uniprot.org/core/pages | "383-386"xsd:string |
| http://purl.uniprot.org/citations/11503168 | http://purl.uniprot.org/core/title | "Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome."xsd:string |
| http://purl.uniprot.org/citations/11503168 | http://purl.uniprot.org/core/volume | "102"xsd:string |
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