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17318840
Source:
http://linkedlifedata.com/resource/pubmed/id/17318840
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Statements in which the resource exists as a subject.
Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0015127
,
umls-concept:C0039082
,
umls-concept:C0205419
,
umls-concept:C0332257
,
umls-concept:C0332307
,
umls-concept:C0439751
,
umls-concept:C0596790
,
umls-concept:C1314792
,
umls-concept:C1417172
,
umls-concept:C1442161
pubmed:issue
6
pubmed:dateCreated
2007-2-28
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/101235741
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/MITF protein, human
,
http://linkedlifedata.com/resource/pubmed/chemical/Microphthalmia-Associated...
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
1552-4825
pubmed:author
pubmed-author:Gillessen-KaesbachGabrieleG
,
pubmed-author:KroiselPeter MPM
,
pubmed-author:OfnerLisaL
,
pubmed-author:PetekErwinE
,
pubmed-author:PreiseggerKarl-HeinzKH
,
pubmed-author:SchaperdothBarbaraB
,
pubmed-author:SchwarzbraunThomasT
,
pubmed-author:WagnerKlausK
,
pubmed-author:WindpassingerChristianC
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
143
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
619-24
pubmed:meshHeading
pubmed-meshheading:17318840-Abnormalities, Multiple
,
pubmed-meshheading:17318840-Chromosome Banding
,
pubmed-meshheading:17318840-Chromosome Deletion
,
pubmed-meshheading:17318840-Chromosome Mapping
,
pubmed-meshheading:17318840-Chromosomes, Human, Pair 3
,
pubmed-meshheading:17318840-Gene Deletion
,
pubmed-meshheading:17318840-Genetic Predisposition to Disease
,
pubmed-meshheading:17318840-Humans
,
pubmed-meshheading:17318840-Infant
,
pubmed-meshheading:17318840-Karyotyping
,
pubmed-meshheading:17318840-Male
,
pubmed-meshheading:17318840-Microphthalmia-Associated Transcription Factor
,
pubmed-meshheading:17318840-Microsatellite Repeats
,
pubmed-meshheading:17318840-Pedigree
,
pubmed-meshheading:17318840-Pigmentation Disorders
,
pubmed-meshheading:17318840-Waardenburg's Syndrome
pubmed:year
2007
pubmed:articleTitle
A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes.
pubmed:affiliation
Institute of Medical Biology and Human Genetics, Medical University of Graz, Graz, Austria.
pubmed:publicationType
Journal Article
,
Case Reports