| http://purl.uniprot.org/citations/10408786 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10408786 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10408786 | http://www.w3.org/2000/01/rdf-schema#comment | "Steroid 21-hydroxylase deficiency is the major cause of congenital adrenal hyperplasia (CAH). CAH due to 21-hydroxylase deficiency is divided into three classes: salt-wasting (classical), non-classical and simple virilizing, reflecting different degrees of clinical severity. Using polymerase chain reaction (PCR) and allele-specific oligonucleotide hybridisation (ASO), we screened the DNA of 62 Caucasian CAH families (heterozygous parents and children) for 14 different and frequently-found CYP21-mutations (HGMD). Of the 62 patients (21 males, 41 females), 26 females and 11 males had the classical or salt-wasting form, 3 females and 1 male had the non-classical form and 14 females and 7 males had simple virilizing CAH. More than 60% of the patients were compound-heterozygous. We found the mutations on 110 alleles (out of 124 alleles). There were 30 CYP21 gene deletions/conversions, 3 substitutions (P30L) in exon 1, 30 splice mutations (c.93-13A/C>G) in intron 2, 26 point mutations (I172N) in exon 4, one cluster of mutations (I236N, V237E, M239K) in exon 6, 8 mutations (V281L and 1760-1761insT) in exon 7, and 8 nonsense (Q318X) and 4 missense (R356W) mutations in exon 8. Our study supports the case for using this rapid technique for CAH-family screening as long as alleles from both affected patients and parents are screened in parallel."xsd:string |
| http://purl.uniprot.org/citations/10408786 | http://purl.org/dc/terms/identifier | "doi:10.1002/(sici)1098-1004(1999)13:6<505::aid-humu16>3.0.co;2-0"xsd:string |
| http://purl.uniprot.org/citations/10408786 | http://purl.org/dc/terms/identifier | "doi:10.1002/(sici)1098-1004(1999)13:6<505::aid-humu16>3.0.co;2-0"xsd:string |
| http://purl.uniprot.org/citations/10408786 | http://purl.uniprot.org/core/author | "Peters H."xsd:string |
| http://purl.uniprot.org/citations/10408786 | http://purl.uniprot.org/core/author | "Peters H."xsd:string |
| http://purl.uniprot.org/citations/10408786 | http://purl.uniprot.org/core/author | "Kofler R."xsd:string |
| http://purl.uniprot.org/citations/10408786 | http://purl.uniprot.org/core/author | "Kofler R."xsd:string |
| http://purl.uniprot.org/citations/10408786 | http://purl.uniprot.org/core/author | "Wollmann H."xsd:string |
| http://purl.uniprot.org/citations/10408786 | http://purl.uniprot.org/core/author | "Wollmann H."xsd:string |
| http://purl.uniprot.org/citations/10408786 | http://purl.uniprot.org/core/author | "Ghanaati Z."xsd:string |
| http://purl.uniprot.org/citations/10408786 | http://purl.uniprot.org/core/author | "Ghanaati Z."xsd:string |
| http://purl.uniprot.org/citations/10408786 | http://purl.uniprot.org/core/author | "Kapelari K."xsd:string |
| http://purl.uniprot.org/citations/10408786 | http://purl.uniprot.org/core/author | "Kapelari K."xsd:string |
| http://purl.uniprot.org/citations/10408786 | http://purl.uniprot.org/core/author | "Ranke M.B."xsd:string |
| http://purl.uniprot.org/citations/10408786 | http://purl.uniprot.org/core/author | "Ranke M.B."xsd:string |
| http://purl.uniprot.org/citations/10408786 | http://purl.uniprot.org/core/author | "Ventz M."xsd:string |
| http://purl.uniprot.org/citations/10408786 | http://purl.uniprot.org/core/author | "Ventz M."xsd:string |
| http://purl.uniprot.org/citations/10408786 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
| http://purl.uniprot.org/citations/10408786 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
| http://purl.uniprot.org/citations/10408786 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/10408786 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/10408786 | http://purl.uniprot.org/core/pages | "505"xsd:string |
| http://purl.uniprot.org/citations/10408786 | http://purl.uniprot.org/core/pages | "505"xsd:string |