| pubmed-article:9177280 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:9177280 | lifeskim:mentions | umls-concept:C0086418 | lld:lifeskim |
| pubmed-article:9177280 | lifeskim:mentions | umls-concept:C0075233 | lld:lifeskim |
| pubmed-article:9177280 | lifeskim:mentions | umls-concept:C0268293 | lld:lifeskim |
| pubmed-article:9177280 | lifeskim:mentions | umls-concept:C1314792 | lld:lifeskim |
| pubmed-article:9177280 | lifeskim:mentions | umls-concept:C1413857 | lld:lifeskim |
| pubmed-article:9177280 | lifeskim:mentions | umls-concept:C0162735 | lld:lifeskim |
| pubmed-article:9177280 | lifeskim:mentions | umls-concept:C0015295 | lld:lifeskim |
| pubmed-article:9177280 | lifeskim:mentions | umls-concept:C0679058 | lld:lifeskim |
| pubmed-article:9177280 | lifeskim:mentions | umls-concept:C2924612 | lld:lifeskim |
| pubmed-article:9177280 | lifeskim:mentions | umls-concept:C1547699 | lld:lifeskim |
| pubmed-article:9177280 | lifeskim:mentions | umls-concept:C2700640 | lld:lifeskim |
| pubmed-article:9177280 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:9177280 | pubmed:dateCreated | 1997-7-10 | lld:pubmed |
| pubmed-article:9177280 | pubmed:abstractText | Corticosterone methyloxidase I (CMO I) deficiency is an autosomal recessive disorder of aldosterone biosynthesis. To determine further the molecular genetic basis of CMO I deficiency, a patient of Turkish origin that suffered from CMO I deficiency was studied. Nucleotide sequencing of the PCR-amplified exons from the genomic DNA of this patient revealed a single point mutation CTG (leucine) CCG (proline) at codon 461 in exon 8 of CYP11B2, which is involved in the putative heme binding site of steroid 18-hydroxylase (P450(C18)). The expression study using a cDNA introducing the point mutation revealed that the amino acid substitution totally abolishes the P450(C18)p3 enzyme activities required for conversion of 11-deoxycorticosterone to aldosterone, even though the mutant product was detected in the mitochondrial fraction of the transfected cells. These results suggest that this point mutation causes CMO I deficiency. | lld:pubmed |
| pubmed-article:9177280 | pubmed:language | eng | lld:pubmed |
| pubmed-article:9177280 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9177280 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:9177280 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9177280 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9177280 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9177280 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9177280 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9177280 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9177280 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:9177280 | pubmed:month | May | lld:pubmed |
| pubmed-article:9177280 | pubmed:issn | 0006-291X | lld:pubmed |
| pubmed-article:9177280 | pubmed:author | pubmed-author:HashimotoKK | lld:pubmed |
| pubmed-article:9177280 | pubmed:author | pubmed-author:ImuraHH | lld:pubmed |
| pubmed-article:9177280 | pubmed:author | pubmed-author:ShizutaYY | lld:pubmed |
| pubmed-article:9177280 | pubmed:author | pubmed-author:TodaKK | lld:pubmed |
| pubmed-article:9177280 | pubmed:author | pubmed-author:IshimuraYY | lld:pubmed |
| pubmed-article:9177280 | pubmed:author | pubmed-author:NomotoSS | lld:pubmed |
| pubmed-article:9177280 | pubmed:author | pubmed-author:OnishiSS | lld:pubmed |
| pubmed-article:9177280 | pubmed:author | pubmed-author:MassaGG | lld:pubmed |
| pubmed-article:9177280 | pubmed:author | pubmed-author:DoiYY | lld:pubmed |
| pubmed-article:9177280 | pubmed:author | pubmed-author:OgoshiSS | lld:pubmed |
| pubmed-article:9177280 | pubmed:author | pubmed-author:FukataJJ | lld:pubmed |
| pubmed-article:9177280 | pubmed:author | pubmed-author:MitaniFF | lld:pubmed |
| pubmed-article:9177280 | pubmed:author | pubmed-author:YamashiroTT | lld:pubmed |
| pubmed-article:9177280 | pubmed:author | pubmed-author:MiyaharaKK | lld:pubmed |
| pubmed-article:9177280 | pubmed:author | pubmed-author:NaganoII | lld:pubmed |
| pubmed-article:9177280 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:9177280 | pubmed:day | 19 | lld:pubmed |
| pubmed-article:9177280 | pubmed:volume | 234 | lld:pubmed |
| pubmed-article:9177280 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:9177280 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:9177280 | pubmed:pagination | 382-5 | lld:pubmed |
| pubmed-article:9177280 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:9177280 | pubmed:meshHeading | pubmed-meshheading:9177280-... | lld:pubmed |
| pubmed-article:9177280 | pubmed:meshHeading | pubmed-meshheading:9177280-... | lld:pubmed |
| pubmed-article:9177280 | pubmed:meshHeading | pubmed-meshheading:9177280-... | lld:pubmed |
| pubmed-article:9177280 | pubmed:meshHeading | pubmed-meshheading:9177280-... | lld:pubmed |
| pubmed-article:9177280 | pubmed:meshHeading | pubmed-meshheading:9177280-... | lld:pubmed |
| pubmed-article:9177280 | pubmed:meshHeading | pubmed-meshheading:9177280-... | lld:pubmed |
| pubmed-article:9177280 | pubmed:meshHeading | pubmed-meshheading:9177280-... | lld:pubmed |
| pubmed-article:9177280 | pubmed:meshHeading | pubmed-meshheading:9177280-... | lld:pubmed |
| pubmed-article:9177280 | pubmed:meshHeading | pubmed-meshheading:9177280-... | lld:pubmed |
| pubmed-article:9177280 | pubmed:meshHeading | pubmed-meshheading:9177280-... | lld:pubmed |
| pubmed-article:9177280 | pubmed:meshHeading | pubmed-meshheading:9177280-... | lld:pubmed |
| pubmed-article:9177280 | pubmed:meshHeading | pubmed-meshheading:9177280-... | lld:pubmed |
| pubmed-article:9177280 | pubmed:meshHeading | pubmed-meshheading:9177280-... | lld:pubmed |
| pubmed-article:9177280 | pubmed:meshHeading | pubmed-meshheading:9177280-... | lld:pubmed |
| pubmed-article:9177280 | pubmed:meshHeading | pubmed-meshheading:9177280-... | lld:pubmed |
| pubmed-article:9177280 | pubmed:year | 1997 | lld:pubmed |
| pubmed-article:9177280 | pubmed:articleTitle | CMO I deficiency caused by a point mutation in exon 8 of the human CYP11B2 gene encoding steroid 18-hydroxylase (P450C18). | lld:pubmed |
| pubmed-article:9177280 | pubmed:affiliation | Department of Medical Chemistry, Kochi Medical School, Nankoku, Japan. | lld:pubmed |
| pubmed-article:9177280 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:9177280 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:1585 | entrezgene:pubmed | pubmed-article:9177280 | lld:entrezgene |
