| http://purl.uniprot.org/citations/15064320 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15064320 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15064320 | http://www.w3.org/2000/01/rdf-schema#comment | "The goal of this study was to perform 5-alpha-reductase type 2 gene (SRD5A2) analysis in a male pseudohermaphrodite (MPH) patient with normal testosterone (T) production and normal androgen receptor (AR) gene coding sequences. A patient of Chinese origin with ambiguous genitalia at 14 months, a 46,XY karyotype, and normal T secretion under human chorionic gonadotropin (hCG) stimulation underwent a gonadectomy at 20 months. Exons 1-8 of the AR gene and exons 1-5 of the SRD5A2 gene were sequenced from peripheral blood DNA. AR gene coding sequences were normal. SRD5A2 gene analysis revealed 2 consecutive mutations in exon 4, each located in a different allele: 1) a T nucleotide deletion, which predicts a frameshift mutation from codon 219, and 2) a missense mutation at codon 227, where the substitution of guanine (CGA) by adenine (CAA) predicts a glutamine replacement of arginine (R227Q). Testes located in the inguinal canal showed a normal morphology for age. The patient was a compound heterozygote for SRD5A2 mutations, carrying 2 mutations in exon 4. The patient showed an R227Q mutation that has been described in an Asian population and MPH patients, along with a novel frameshift mutation, Tdel219. Testis morphology showed that, during early infancy, the 5-alpha-reductase enzyme deficiency may not have affected interstitial or tubular development."xsd:string |
| http://purl.uniprot.org/citations/15064320 | http://purl.org/dc/terms/identifier | "doi:10.1002/j.1939-4640.2004.tb02808.x"xsd:string |
| http://purl.uniprot.org/citations/15064320 | http://purl.org/dc/terms/identifier | "doi:10.1002/j.1939-4640.2004.tb02808.x"xsd:string |
| http://purl.uniprot.org/citations/15064320 | http://purl.uniprot.org/core/author | "Gracia R."xsd:string |
| http://purl.uniprot.org/citations/15064320 | http://purl.uniprot.org/core/author | "Gracia R."xsd:string |
| http://purl.uniprot.org/citations/15064320 | http://purl.uniprot.org/core/author | "Audi L."xsd:string |
| http://purl.uniprot.org/citations/15064320 | http://purl.uniprot.org/core/author | "Audi L."xsd:string |
| http://purl.uniprot.org/citations/15064320 | http://purl.uniprot.org/core/author | "Carrascosa A."xsd:string |
| http://purl.uniprot.org/citations/15064320 | http://purl.uniprot.org/core/author | "Carrascosa A."xsd:string |
| http://purl.uniprot.org/citations/15064320 | http://purl.uniprot.org/core/author | "Esteban C."xsd:string |
| http://purl.uniprot.org/citations/15064320 | http://purl.uniprot.org/core/author | "Esteban C."xsd:string |
| http://purl.uniprot.org/citations/15064320 | http://purl.uniprot.org/core/author | "Fernandez-Cancio M."xsd:string |
| http://purl.uniprot.org/citations/15064320 | http://purl.uniprot.org/core/author | "Fernandez-Cancio M."xsd:string |
| http://purl.uniprot.org/citations/15064320 | http://purl.uniprot.org/core/author | "Molina M.A."xsd:string |
| http://purl.uniprot.org/citations/15064320 | http://purl.uniprot.org/core/author | "Molina M.A."xsd:string |
| http://purl.uniprot.org/citations/15064320 | http://purl.uniprot.org/core/author | "Nistal M."xsd:string |
| http://purl.uniprot.org/citations/15064320 | http://purl.uniprot.org/core/author | "Nistal M."xsd:string |
| http://purl.uniprot.org/citations/15064320 | http://purl.uniprot.org/core/author | "Tovar J.A."xsd:string |
| http://purl.uniprot.org/citations/15064320 | http://purl.uniprot.org/core/author | "Tovar J.A."xsd:string |
| http://purl.uniprot.org/citations/15064320 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
| http://purl.uniprot.org/citations/15064320 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
| http://purl.uniprot.org/citations/15064320 | http://purl.uniprot.org/core/name | "J. Androl."xsd:string |
| http://purl.uniprot.org/citations/15064320 | http://purl.uniprot.org/core/name | "J. Androl."xsd:string |