Linked Life Data

8781532

Source:http://linkedlifedata.com/resource/pubmed/id/8781532

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1996-10-4
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.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0006-3002
pubmed:author
pubmed:issnType
Print
pubmed:day
23
pubmed:volume
1316
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
149-52
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
Molecular characterization of a novel defect occurring de novo associated with erythropoietic protoporphyria.
pubmed:affiliation
Department of Pediatrics, Columbia University, College of Physicians and Surgeons, New York, NY 10032, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports