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17392831
Source:
http://linkedlifedata.com/resource/pubmed/id/17392831
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56
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Statements in which the resource exists as a subject.
Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0015272
,
umls-concept:C0015576
,
umls-concept:C0017337
,
umls-concept:C0079380
,
umls-concept:C0205231
,
umls-concept:C0240620
,
umls-concept:C0392752
,
umls-concept:C0425375
,
umls-concept:C0678226
,
umls-concept:C1427484
,
umls-concept:C1836672
,
umls-concept:C1853719
pubmed:issue
7
pubmed:dateCreated
2007-6-14
pubmed:grant
http://linkedlifedata.com/resource/pubmed/grant/R01-AR44924
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/0426720
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/DSG4 protein, human
,
http://linkedlifedata.com/resource/pubmed/chemical/Desmogleins
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
1523-1747
pubmed:author
pubmed-author:BazziHishamH
,
pubmed-author:ChristianoAngela MAM
,
pubmed-author:LubetkinJillianJ
,
pubmed-author:RockeyJonathanJ
,
pubmed-author:WajidMuhammadM
,
pubmed-author:ZlotogorskiAbrahamA
pubmed:issnType
Electronic
pubmed:volume
127
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1779-82
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed-meshheading:17392831-Adolescent
,
pubmed-meshheading:17392831-Asian Continental Ancestry Group
,
pubmed-meshheading:17392831-Child
,
pubmed-meshheading:17392831-Child, Preschool
,
pubmed-meshheading:17392831-Consanguinity
,
pubmed-meshheading:17392831-Desmogleins
,
pubmed-meshheading:17392831-Female
,
pubmed-meshheading:17392831-Frameshift Mutation
,
pubmed-meshheading:17392831-Genes, Recessive
,
pubmed-meshheading:17392831-Humans
,
pubmed-meshheading:17392831-Hypotrichosis
,
pubmed-meshheading:17392831-Male
,
pubmed-meshheading:17392831-Pakistan
,
pubmed-meshheading:17392831-Pedigree
,
pubmed-meshheading:17392831-Phenotype
pubmed:year
2007
pubmed:articleTitle
Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family.
pubmed:publicationType
Letter
,
Case Reports
,
Research Support, N.I.H., Extramural