Linked Life Data

1720261

Source:http://linkedlifedata.com/resource/pubmed/id/1720261

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5035
pubmed:dateCreated
1991-12-27
pubmed:abstractText
Epidermolysis bullosa simplex (EBS) is characterized by skin blistering due to basal keratinocyte fragility. In one family studied, inheritance of EBS is linked to the gene encoding keratin 14, and a thymine to cytosine mutation in exon 6 of keratin 14 has introduced a proline in the middle of an alpha-helical region. In a second family, inheritance of EBS is linked to loci that map near the keratin 5 gene. These data indicate that abnormalities of either of the components of the keratin intermediate filament heterodipolymer can impair the mechanical stability of these epithelial cells.
pubmed:grant
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0036-8075
pubmed:author
pubmed:issnType
Print
pubmed:day
22
pubmed:volume
254
pubmed:geneSymbol
K14, K5
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1202-5
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
1991
pubmed:articleTitle
Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities.
pubmed:affiliation
Department of Dermatology, San Francisco General Hospital, University of California 94110.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S.