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18484313
Source:
http://linkedlifedata.com/resource/pubmed/id/18484313
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Statements in which the resource exists as a subject.
Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0000769
,
umls-concept:C0026882
,
umls-concept:C0265354
,
umls-concept:C1314792
,
umls-concept:C1427038
,
umls-concept:C1522230
pubmed:issue
2
pubmed:dateCreated
2008-5-19
pubmed:abstractText
To report new findings in the CHARGE syndrome with phenotypic anomalies associated with the R2319C mutation in the CHD7 gene.
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/9436057
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/CHD7 protein, human
,
http://linkedlifedata.com/resource/pubmed/chemical/DNA Helicases
,
http://linkedlifedata.com/resource/pubmed/chemical/DNA-Binding Proteins
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1744-5094
pubmed:author
pubmed-author:HolakHeinrich MHM
,
pubmed-author:HolakNikolai HNH
,
pubmed-author:HolakSophie ASA
,
pubmed-author:KohlhaseJurgenJ
pubmed:issnType
Electronic
pubmed:volume
29
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
79-84
pubmed:meshHeading
pubmed-meshheading:18484313-Abnormalities, Multiple
,
pubmed-meshheading:18484313-Adult
,
pubmed-meshheading:18484313-Choanal Atresia
,
pubmed-meshheading:18484313-Coloboma
,
pubmed-meshheading:18484313-DNA Helicases
,
pubmed-meshheading:18484313-DNA Mutational Analysis
,
pubmed-meshheading:18484313-DNA-Binding Proteins
,
pubmed-meshheading:18484313-Ear
,
pubmed-meshheading:18484313-Female
,
pubmed-meshheading:18484313-Fluorescein Angiography
,
pubmed-meshheading:18484313-Humans
,
pubmed-meshheading:18484313-Mutation
,
pubmed-meshheading:18484313-Optic Disk
,
pubmed-meshheading:18484313-Phenotype
,
pubmed-meshheading:18484313-Syndrome
,
pubmed-meshheading:18484313-Tomography, Optical Coherence
pubmed:year
2008
pubmed:articleTitle
New recognized ophthalmic morphologic anomalies in CHARGE syndrome caused by the R2319C mutation in the CHD7 gene.
pubmed:affiliation
Augenklinik Salzgitter, Salzgitter, Germany.
pubmed:publicationType
Journal Article
,
Case Reports