|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
1
|
|
pubmed:dateCreated |
2011-1-3
|
|
pubmed:abstractText |
Kindler syndrome (KS) is a rare, inherited skin disease characterized by blister formation and generalized poikiloderma. Mutations in KIND1, which encodes kindlin-1, are responsible for KS. c.1089del/1089+1del is a recurrent splice-site deletion mutation in KS patients.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Jan
|
|
pubmed:issn |
1873-569X
|
|
pubmed:author |
|
|
pubmed:copyrightInfo |
Copyright © 2010 Japanese Society for Investigative Dermatology. Published by Elsevier Ireland Ltd. All rights reserved.
|
|
pubmed:issnType |
Electronic
|
|
pubmed:volume |
61
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
38-44
|
|
pubmed:meshHeading |
pubmed-meshheading:21146372-Adult,
pubmed-meshheading:21146372-Antigens, CD29,
pubmed-meshheading:21146372-Blister,
pubmed-meshheading:21146372-Epidermolysis Bullosa,
pubmed-meshheading:21146372-Exons,
pubmed-meshheading:21146372-Female,
pubmed-meshheading:21146372-Gene Expression,
pubmed-meshheading:21146372-Humans,
pubmed-meshheading:21146372-Male,
pubmed-meshheading:21146372-Membrane Proteins,
pubmed-meshheading:21146372-Mutation,
pubmed-meshheading:21146372-Neoplasm Proteins,
pubmed-meshheading:21146372-Periodontal Diseases,
pubmed-meshheading:21146372-Photosensitivity Disorders,
pubmed-meshheading:21146372-RNA, Messenger,
pubmed-meshheading:21146372-RNA Splice Sites,
pubmed-meshheading:21146372-RNA Splicing,
pubmed-meshheading:21146372-Skin
|
|
pubmed:year |
2011
|
|
pubmed:articleTitle |
Expression of exon-8-skipped kindlin-1 does not compensate for defects of Kindler syndrome.
|
|
pubmed:affiliation |
Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Sapporo, Japan. natsuga@med.hokudai.ac.jp
|
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|
