| http://purl.uniprot.org/citations/26804566 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/26804566 | http://www.w3.org/2000/01/rdf-schema#comment | "Steroid 21-hydroxylase deficiency (21-OHD) caused by the CYP21A2 gene mutations accounts for more than 90% of congenital adrenal hyperplasia (CAH) cases. In this study, molecular defects of 230 patients with 21-OHD were investigated. Point mutations of CYP21A2 gene were analyzed by Sanger sequencing, and large gene deletions were detected by multiplex ligation-dependent probe amplification (MLPA). Nine micro-conversions and 18 spontaneous mutations accounted for 74.6% of alleles, while large gene deletions and large gene conversions accounted for 25.4% of alleles. The most frequent micro-conversion was c.292-13A/C>G (I2G) (35%), followed by p.I173N (14.3%), p.R357W (5.9%) and p.Q319* (4.6%). Nine novel mutations were identified in these patients, which were predicted to hamper the 21-hydroxylase protein function in varying degrees. Genotype and phenotype correlated well in 89.6% of our patients, but disparity in phenotypic appearance also appeared in a small portion of the patients. 16.1% of the patients carried homozygous genotypes while 83.9% of patients carried compound heterozygous mutations. We concluded that the frequency of CYP21A2 mutations in our study was slightly different from those reported for other ethnic groups. Micro-conversions were the main category of the mutation spectrum, while large deletions and large gene conversions could also cause 21-OHD. A large portion of different types of the compound heterozygous genotypes may partially contribute to the discordance in genotype-phenotype comparison. This study expanded the CYP21A2 mutation spectrum of Chinese patients and could be helpful in prenatal diagnosis and genetic counseling for 21-OHD patients."xsd:string |
| http://purl.uniprot.org/citations/26804566 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.steroids.2016.01.007"xsd:string |
| http://purl.uniprot.org/citations/26804566 | http://purl.uniprot.org/core/author | "Gong Z."xsd:string |
| http://purl.uniprot.org/citations/26804566 | http://purl.uniprot.org/core/author | "Zhang H."xsd:string |
| http://purl.uniprot.org/citations/26804566 | http://purl.uniprot.org/core/author | "Wang L."xsd:string |
| http://purl.uniprot.org/citations/26804566 | http://purl.uniprot.org/core/author | "Yu Y."xsd:string |
| http://purl.uniprot.org/citations/26804566 | http://purl.uniprot.org/core/author | "Ye J."xsd:string |
| http://purl.uniprot.org/citations/26804566 | http://purl.uniprot.org/core/author | "Wang R."xsd:string |
| http://purl.uniprot.org/citations/26804566 | http://purl.uniprot.org/core/author | "Han L."xsd:string |
| http://purl.uniprot.org/citations/26804566 | http://purl.uniprot.org/core/author | "Qiu W."xsd:string |
| http://purl.uniprot.org/citations/26804566 | http://purl.uniprot.org/core/author | "Gu X."xsd:string |
| http://purl.uniprot.org/citations/26804566 | http://purl.uniprot.org/core/author | "Liang L."xsd:string |
| http://purl.uniprot.org/citations/26804566 | http://purl.uniprot.org/core/date | "2016"xsd:gYear |
| http://purl.uniprot.org/citations/26804566 | http://purl.uniprot.org/core/name | "Steroids"xsd:string |
| http://purl.uniprot.org/citations/26804566 | http://purl.uniprot.org/core/pages | "47-55"xsd:string |
| http://purl.uniprot.org/citations/26804566 | http://purl.uniprot.org/core/title | "21-hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype-phenotype correlation and identification of nine novel mutations."xsd:string |
| http://purl.uniprot.org/citations/26804566 | http://purl.uniprot.org/core/volume | "108"xsd:string |
| http://purl.uniprot.org/citations/26804566 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/26804566 |
| http://purl.uniprot.org/citations/26804566 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/26804566 |
| http://purl.uniprot.org/uniprot/#_A0A023J7R6-mappedCitation-26804566 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/26804566 |
| http://purl.uniprot.org/uniprot/#_A0A2U7NZY9-mappedCitation-26804566 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/26804566 |
| http://purl.uniprot.org/uniprot/#_A0A0H4CUT2-mappedCitation-26804566 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/26804566 |
| http://purl.uniprot.org/uniprot/#_A6ZI22-mappedCitation-26804566 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/26804566 |
| http://purl.uniprot.org/uniprot/#_C7DTW8-mappedCitation-26804566 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/26804566 |