| pubmed-article:1577472 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:1577472 | lifeskim:mentions | umls-concept:C0019425 | lld:lifeskim |
| pubmed-article:1577472 | lifeskim:mentions | umls-concept:C0019904 | lld:lifeskim |
| pubmed-article:1577472 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:1577472 | lifeskim:mentions | umls-concept:C0009221 | lld:lifeskim |
| pubmed-article:1577472 | lifeskim:mentions | umls-concept:C0032706 | lld:lifeskim |
| pubmed-article:1577472 | lifeskim:mentions | umls-concept:C0162565 | lld:lifeskim |
| pubmed-article:1577472 | lifeskim:mentions | umls-concept:C1705165 | lld:lifeskim |
| pubmed-article:1577472 | lifeskim:mentions | umls-concept:C0178499 | lld:lifeskim |
| pubmed-article:1577472 | lifeskim:mentions | umls-concept:C2700061 | lld:lifeskim |
| pubmed-article:1577472 | lifeskim:mentions | umls-concept:C0205117 | lld:lifeskim |
| pubmed-article:1577472 | lifeskim:mentions | umls-concept:C0205198 | lld:lifeskim |
| pubmed-article:1577472 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:1577472 | pubmed:dateCreated | 1992-6-9 | lld:pubmed |
| pubmed-article:1577472 | pubmed:abstractText | A sister and brother with severe porphobilinogen (PBG) deaminase deficiency are described. Each of their parents carries a different mutation for acute intermittent porphyria and the children are homozygous for the PBG-deaminase deficiency that causes this disorder. Both are compound heterozygotes for adjacent base transitions in the same codon in exon 10 of the PBG deaminase gene. | lld:pubmed |
| pubmed-article:1577472 | pubmed:language | eng | lld:pubmed |
| pubmed-article:1577472 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1577472 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:1577472 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1577472 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1577472 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:1577472 | pubmed:month | Apr | lld:pubmed |
| pubmed-article:1577472 | pubmed:issn | 0340-6717 | lld:pubmed |
| pubmed-article:1577472 | pubmed:author | pubmed-author:EgüesJ CJC | lld:pubmed |
| pubmed-article:1577472 | pubmed:author | pubmed-author:RattenburyJ... | lld:pubmed |
| pubmed-article:1577472 | pubmed:author | pubmed-author:SmithM FMF | lld:pubmed |
| pubmed-article:1577472 | pubmed:author | pubmed-author:HutchessonA... | lld:pubmed |
| pubmed-article:1577472 | pubmed:author | pubmed-author:LlewellynD... | lld:pubmed |
| pubmed-article:1577472 | pubmed:author | pubmed-author:SmythS JSJ | lld:pubmed |
| pubmed-article:1577472 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:1577472 | pubmed:volume | 89 | lld:pubmed |
| pubmed-article:1577472 | pubmed:geneSymbol | PBG | lld:pubmed |
| pubmed-article:1577472 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:1577472 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:1577472 | pubmed:pagination | 97-8 | lld:pubmed |
| pubmed-article:1577472 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:1577472 | pubmed:meshHeading | pubmed-meshheading:1577472-... | lld:pubmed |
| pubmed-article:1577472 | pubmed:meshHeading | pubmed-meshheading:1577472-... | lld:pubmed |
| pubmed-article:1577472 | pubmed:meshHeading | pubmed-meshheading:1577472-... | lld:pubmed |
| pubmed-article:1577472 | pubmed:meshHeading | pubmed-meshheading:1577472-... | lld:pubmed |
| pubmed-article:1577472 | pubmed:meshHeading | pubmed-meshheading:1577472-... | lld:pubmed |
| pubmed-article:1577472 | pubmed:meshHeading | pubmed-meshheading:1577472-... | lld:pubmed |
| pubmed-article:1577472 | pubmed:meshHeading | pubmed-meshheading:1577472-... | lld:pubmed |
| pubmed-article:1577472 | pubmed:meshHeading | pubmed-meshheading:1577472-... | lld:pubmed |
| pubmed-article:1577472 | pubmed:meshHeading | pubmed-meshheading:1577472-... | lld:pubmed |
| pubmed-article:1577472 | pubmed:meshHeading | pubmed-meshheading:1577472-... | lld:pubmed |
| pubmed-article:1577472 | pubmed:meshHeading | pubmed-meshheading:1577472-... | lld:pubmed |
| pubmed-article:1577472 | pubmed:meshHeading | pubmed-meshheading:1577472-... | lld:pubmed |
| pubmed-article:1577472 | pubmed:year | 1992 | lld:pubmed |
| pubmed-article:1577472 | pubmed:articleTitle | Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene. | lld:pubmed |
| pubmed-article:1577472 | pubmed:affiliation | Department of Medical Biochemistry, University of Wales College of Medicine, Heath Park, Cardiff, UK. | lld:pubmed |
| pubmed-article:1577472 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:1577472 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1577472 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1577472 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1577472 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1577472 | lld:pubmed |
