| pubmed-article:11039124 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:11039124 | lifeskim:mentions | umls-concept:C0017313 | lld:lifeskim |
| pubmed-article:11039124 | lifeskim:mentions | umls-concept:C0162568 | lld:lifeskim |
| pubmed-article:11039124 | lifeskim:mentions | umls-concept:C0233820 | lld:lifeskim |
| pubmed-article:11039124 | lifeskim:mentions | umls-concept:C0699748 | lld:lifeskim |
| pubmed-article:11039124 | pubmed:issue | 10 | lld:pubmed |
| pubmed-article:11039124 | pubmed:dateCreated | 2001-1-23 | lld:pubmed |
| pubmed-article:11039124 | pubmed:abstractText | Erythropoietic protoporphyria (EPP, MIM 177000) is an inherited disorder caused by a partial deficiency of ferrochelatase (FECH) which catalyses the chelation of iron into protoporphyrin to form haem. The majority of EPP patients experience solely a painful photosensitivity whereas a small number of them develop liver complications due to the accumulation of excessive amount of protoporphyrin in the liver. EPP is considered to be an autosomal dominant disorder, however, with a low clinical penetrance. To date, a total of 65 different mutations have been identified in the FECH gene of EPP patients. Among the 89 EPP patients who carry a "null allele" mutation which results in the formation of a truncated protein, 18 of them developed EPP-related liver complications. None of the 16 missense mutations identified among 19 patients on the other hand, have been associated with liver disease (P = 0.038). The allelic constellation of an overt patient consists of a mutated FECH allele and a "low expressed" normal allele and that of an asymptomatic carrier, a combination of a mutated and a normally expressed FECH allele. The identification of the "low expressed" allele is facilitated by haplotype analysis using two single nucleotide polymorphisms, -251 A/G in the promoter region and IVS1-23C/T. At the current time when only partially effective therapies are available, the disclosures of both "null allele" and the "low expression" mechanisms will improve patient management. CONCLUSION: While covering the important clinical aspect of erythropoietic protoporphyria, this article emphasises the latest achievements in the molecular genetics of the disorder. | lld:pubmed |
| pubmed-article:11039124 | pubmed:language | eng | lld:pubmed |
| pubmed-article:11039124 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11039124 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:11039124 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11039124 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:11039124 | pubmed:month | Oct | lld:pubmed |
| pubmed-article:11039124 | pubmed:issn | 0340-6199 | lld:pubmed |
| pubmed-article:11039124 | pubmed:author | pubmed-author:MinderE IEI | lld:pubmed |
| pubmed-article:11039124 | pubmed:author | pubmed-author:DeybachJ CJC | lld:pubmed |
| pubmed-article:11039124 | pubmed:author | pubmed-author:Schneider-Yin... | lld:pubmed |
| pubmed-article:11039124 | pubmed:author | pubmed-author:GouyaLL | lld:pubmed |
| pubmed-article:11039124 | pubmed:author | pubmed-author:Meier-Weinand... | lld:pubmed |
| pubmed-article:11039124 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:11039124 | pubmed:volume | 159 | lld:pubmed |
| pubmed-article:11039124 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:11039124 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:11039124 | pubmed:pagination | 719-25 | lld:pubmed |
| pubmed-article:11039124 | pubmed:dateRevised | 2005-11-16 | lld:pubmed |
| pubmed-article:11039124 | pubmed:meshHeading | pubmed-meshheading:11039124... | lld:pubmed |
| pubmed-article:11039124 | pubmed:meshHeading | pubmed-meshheading:11039124... | lld:pubmed |
| pubmed-article:11039124 | pubmed:meshHeading | pubmed-meshheading:11039124... | lld:pubmed |
| pubmed-article:11039124 | pubmed:meshHeading | pubmed-meshheading:11039124... | lld:pubmed |
| pubmed-article:11039124 | pubmed:meshHeading | pubmed-meshheading:11039124... | lld:pubmed |
| pubmed-article:11039124 | pubmed:meshHeading | pubmed-meshheading:11039124... | lld:pubmed |
| pubmed-article:11039124 | pubmed:meshHeading | pubmed-meshheading:11039124... | lld:pubmed |
| pubmed-article:11039124 | pubmed:meshHeading | pubmed-meshheading:11039124... | lld:pubmed |
| pubmed-article:11039124 | pubmed:meshHeading | pubmed-meshheading:11039124... | lld:pubmed |
| pubmed-article:11039124 | pubmed:meshHeading | pubmed-meshheading:11039124... | lld:pubmed |
| pubmed-article:11039124 | pubmed:meshHeading | pubmed-meshheading:11039124... | lld:pubmed |
| pubmed-article:11039124 | pubmed:meshHeading | pubmed-meshheading:11039124... | lld:pubmed |
| pubmed-article:11039124 | pubmed:meshHeading | pubmed-meshheading:11039124... | lld:pubmed |
| pubmed-article:11039124 | pubmed:meshHeading | pubmed-meshheading:11039124... | lld:pubmed |
| pubmed-article:11039124 | pubmed:year | 2000 | lld:pubmed |
| pubmed-article:11039124 | pubmed:articleTitle | New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care. | lld:pubmed |
| pubmed-article:11039124 | pubmed:affiliation | Zentrallabor, Stadtspital Triemli, Zürich, Switzerland. | lld:pubmed |
| pubmed-article:11039124 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:11039124 | pubmed:publicationType | Review | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:11039124 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:11039124 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:11039124 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:11039124 | lld:pubmed |
