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19734986
Source:
http://linkedlifedata.com/resource/pubmed/id/19734986
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54
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Statements in which the resource exists as a subject.
Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0017337
,
umls-concept:C0020792
,
umls-concept:C0023795
,
umls-concept:C0026882
,
umls-concept:C0086418
,
umls-concept:C0205314
,
umls-concept:C0679622
,
umls-concept:C2717879
pubmed:issue
5
pubmed:dateCreated
2009-9-7
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/0370310
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/Codon, Terminator
,
http://linkedlifedata.com/resource/pubmed/chemical/ECM1 protein, human
,
http://linkedlifedata.com/resource/pubmed/chemical/Extracellular Matrix Proteins
pubmed:status
MEDLINE
pubmed:issn
0001-5555
pubmed:author
pubmed-author:HafnerArielaA
,
pubmed-author:HorevLiranL
,
pubmed-author:IngberAriehA
,
pubmed-author:JobLL
,
pubmed-author:McGrathJohn AJA
,
pubmed-author:PotikhaTamaraT
,
pubmed-author:WollinaDr UweDU
,
pubmed-author:ZlotogorskiAbrahamA
pubmed:issnType
Print
pubmed:volume
89
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
528-9
pubmed:meshHeading
pubmed-meshheading:19734986-Adult
,
pubmed-meshheading:19734986-Amino Acid Substitution
,
pubmed-meshheading:19734986-Biopsy
,
pubmed-meshheading:19734986-Codon, Terminator
,
pubmed-meshheading:19734986-DNA Mutational Analysis
,
pubmed-meshheading:19734986-Exons
,
pubmed-meshheading:19734986-Extracellular Matrix Proteins
,
pubmed-meshheading:19734986-Frameshift Mutation
,
pubmed-meshheading:19734986-Genetic Predisposition to Disease
,
pubmed-meshheading:19734986-Homozygote
,
pubmed-meshheading:19734986-Humans
,
pubmed-meshheading:19734986-Lipoid Proteinosis of Urbach and Wiethe
,
pubmed-meshheading:19734986-Male
,
pubmed-meshheading:19734986-Middle Aged
,
pubmed-meshheading:19734986-Phenotype
,
pubmed-meshheading:19734986-Sequence Deletion
,
pubmed-meshheading:19734986-Skin
pubmed:year
2009
pubmed:articleTitle
Lipoid proteinosis: identification of two novel mutations in the human ECM-1 gene and lack of genotype-phenotype correlation.
pubmed:publicationType
Letter
,
Case Reports
,
Research Support, Non-U.S. Gov't