| pubmed-article:8781532 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:8781532 | lifeskim:mentions | umls-concept:C0162568 | lld:lifeskim |
| pubmed-article:8781532 | lifeskim:mentions | umls-concept:C1521991 | lld:lifeskim |
| pubmed-article:8781532 | lifeskim:mentions | umls-concept:C0332281 | lld:lifeskim |
| pubmed-article:8781532 | lifeskim:mentions | umls-concept:C1457869 | lld:lifeskim |
| pubmed-article:8781532 | lifeskim:mentions | umls-concept:C0679622 | lld:lifeskim |
| pubmed-article:8781532 | lifeskim:mentions | umls-concept:C1880022 | lld:lifeskim |
| pubmed-article:8781532 | lifeskim:mentions | umls-concept:C0205314 | lld:lifeskim |
| pubmed-article:8781532 | lifeskim:mentions | umls-concept:C1515568 | lld:lifeskim |
| pubmed-article:8781532 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:8781532 | pubmed:dateCreated | 1996-10-4 | lld:pubmed |
| pubmed-article:8781532 | pubmed:abstractText | A ferrochelatase (FC) mRNA lacking exon 4 was detected in a patient with erythropoietic protoporphyria (EPP). The mutation responsible for the exon skipping was a novel one: a G-->C transition at the -1 position of the exon 4 donor site (nucleotide 463). The efficiency of missplicing was not 100%. The same mutation could alternatively result in exon 4 skipping or act as a missense mutation (G463-->C, predicting an Ala155-->Pro substitution), that inactivates the FC activity almost completely. Both parents were negative for the mutation and DNA fingerprinting indicated that both of them are the biological parents with 99.58% certainty. This is the first report of a de novo mutation in EPP. | lld:pubmed |
| pubmed-article:8781532 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8781532 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8781532 | pubmed:language | eng | lld:pubmed |
| pubmed-article:8781532 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8781532 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:8781532 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8781532 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:8781532 | pubmed:month | Aug | lld:pubmed |
| pubmed-article:8781532 | pubmed:issn | 0006-3002 | lld:pubmed |
| pubmed-article:8781532 | pubmed:author | pubmed-author:WangXX | lld:pubmed |
| pubmed-article:8781532 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:8781532 | pubmed:day | 23 | lld:pubmed |
| pubmed-article:8781532 | pubmed:volume | 1316 | lld:pubmed |
| pubmed-article:8781532 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:8781532 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:8781532 | pubmed:pagination | 149-52 | lld:pubmed |
| pubmed-article:8781532 | pubmed:dateRevised | 2007-11-14 | lld:pubmed |
| pubmed-article:8781532 | pubmed:meshHeading | pubmed-meshheading:8781532-... | lld:pubmed |
| pubmed-article:8781532 | pubmed:meshHeading | pubmed-meshheading:8781532-... | lld:pubmed |
| pubmed-article:8781532 | pubmed:meshHeading | pubmed-meshheading:8781532-... | lld:pubmed |
| pubmed-article:8781532 | pubmed:meshHeading | pubmed-meshheading:8781532-... | lld:pubmed |
| pubmed-article:8781532 | pubmed:meshHeading | pubmed-meshheading:8781532-... | lld:pubmed |
| pubmed-article:8781532 | pubmed:meshHeading | pubmed-meshheading:8781532-... | lld:pubmed |
| pubmed-article:8781532 | pubmed:meshHeading | pubmed-meshheading:8781532-... | lld:pubmed |
| pubmed-article:8781532 | pubmed:meshHeading | pubmed-meshheading:8781532-... | lld:pubmed |
| pubmed-article:8781532 | pubmed:meshHeading | pubmed-meshheading:8781532-... | lld:pubmed |
| pubmed-article:8781532 | pubmed:meshHeading | pubmed-meshheading:8781532-... | lld:pubmed |
| pubmed-article:8781532 | pubmed:year | 1996 | lld:pubmed |
| pubmed-article:8781532 | pubmed:articleTitle | Molecular characterization of a novel defect occurring de novo associated with erythropoietic protoporphyria. | lld:pubmed |
| pubmed-article:8781532 | pubmed:affiliation | Department of Pediatrics, Columbia University, College of Physicians and Surgeons, New York, NY 10032, USA. | lld:pubmed |
| pubmed-article:8781532 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:8781532 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:8781532 | pubmed:publicationType | Case Reports | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:8781532 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:8781532 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:8781532 | lld:pubmed |
