| http://purl.uniprot.org/citations/9843052 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9843052 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9843052 | http://www.w3.org/2000/01/rdf-schema#comment | "The molecular basis of a patient with 5alpha-reductase deficiency was investigated in this study. This disease is a rare form of male pseudohermaphroditism with virilization during puberty. The child was raised as a girl, but had a male gender identity early in life. The diagnosis was set at the age of 13 years when the virilization process began. Hypospadias repair was performed and he changed to a male gender. DNA sequence analysis disclosed a homozygous mutation in exon 4 of the 5alpha-reductase type 2 gene, alanine 228 for threonine. The heterozygous parents are first cousins of Pakistani origin."xsd:string |
| http://purl.uniprot.org/citations/9843052 | http://purl.org/dc/terms/identifier | "doi:10.1002/(sici)1096-8628(19981116)80:3<269::aid-ajmg18>3.3.co;2-k"xsd:string |
| http://purl.uniprot.org/citations/9843052 | http://purl.org/dc/terms/identifier | "doi:10.1002/(sici)1096-8628(19981116)80:3<269::aid-ajmg18>3.3.co;2-k"xsd:string |
| http://purl.uniprot.org/citations/9843052 | http://purl.uniprot.org/core/author | "Knudtzon J."xsd:string |
| http://purl.uniprot.org/citations/9843052 | http://purl.uniprot.org/core/author | "Knudtzon J."xsd:string |
| http://purl.uniprot.org/citations/9843052 | http://purl.uniprot.org/core/author | "Nordenskjold A."xsd:string |
| http://purl.uniprot.org/citations/9843052 | http://purl.uniprot.org/core/author | "Nordenskjold A."xsd:string |
| http://purl.uniprot.org/citations/9843052 | http://purl.uniprot.org/core/author | "Aagenaes O."xsd:string |
| http://purl.uniprot.org/citations/9843052 | http://purl.uniprot.org/core/author | "Aagenaes O."xsd:string |
| http://purl.uniprot.org/citations/9843052 | http://purl.uniprot.org/core/author | "Magnus O."xsd:string |
| http://purl.uniprot.org/citations/9843052 | http://purl.uniprot.org/core/author | "Magnus O."xsd:string |
| http://purl.uniprot.org/citations/9843052 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/9843052 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/9843052 | http://purl.uniprot.org/core/name | "Am. J. Med. Genet."xsd:string |
| http://purl.uniprot.org/citations/9843052 | http://purl.uniprot.org/core/name | "Am. J. Med. Genet."xsd:string |
| http://purl.uniprot.org/citations/9843052 | http://purl.uniprot.org/core/pages | "269-272"xsd:string |
| http://purl.uniprot.org/citations/9843052 | http://purl.uniprot.org/core/pages | "269-272"xsd:string |
| http://purl.uniprot.org/citations/9843052 | http://purl.uniprot.org/core/title | "Homozygous mutation (A228T) in the 5-alpha-reductase type 2 gene in a boy with 5-alpha-reductase deficiency: genotype-phenotype correlations."xsd:string |
| http://purl.uniprot.org/citations/9843052 | http://purl.uniprot.org/core/title | "Homozygous mutation (A228T) in the 5-alpha-reductase type 2 gene in a boy with 5-alpha-reductase deficiency: genotype-phenotype correlations."xsd:string |
| http://purl.uniprot.org/citations/9843052 | http://purl.uniprot.org/core/volume | "80"xsd:string |
| http://purl.uniprot.org/citations/9843052 | http://purl.uniprot.org/core/volume | "80"xsd:string |
| http://purl.uniprot.org/citations/9843052 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/9843052 |
| http://purl.uniprot.org/citations/9843052 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/9843052 |