Linked Life Data

16947091

Source:http://linkedlifedata.com/resource/pubmed/id/16947091

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
31-32
pubmed:dateCreated
2006-9-1
pubmed:abstractText
Variegate porphyria (VP), also known as South African porphyria, is a low-penetrance, autosomal dominant disorder as the result of a partial deficiency of protoporphyrinogen oxidase (PPOX). Clinically, VP is characterised by photosensitivity and neurovisceral attacks whereby the two symptoms can appear separately or together in patients. VP is little known in Switzerland. In this study, we report a clinical, biochemical and mutational study of eight Swiss VP patients and their families.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1424-7860
pubmed:author
pubmed:issnType
Print
pubmed:day
5
pubmed:volume
136
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
515-9
pubmed:dateRevised
2011-2-15
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
Swiss patients with variegate porphyria have unique mutations.
pubmed:affiliation
Zentrallabor, Stadtspital Triemli, Zurich, Switzerland.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't