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14646395
Source:
http://linkedlifedata.com/resource/pubmed/id/14646395
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52
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Statements in which the resource exists as a subject.
Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0008059
,
umls-concept:C0026882
,
umls-concept:C0271742
,
umls-concept:C0678226
,
umls-concept:C1422135
pubmed:issue
1
pubmed:dateCreated
2004-2-27
pubmed:abstractText
To investigate the phenotype and genotype of 3 unrelated children with triple A syndrome from southern Turkey.
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/0366126
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/AAAS protein, human
,
http://linkedlifedata.com/resource/pubmed/chemical/Nerve Tissue Proteins
,
http://linkedlifedata.com/resource/pubmed/chemical/Nuclear Pore Complex Proteins
,
http://linkedlifedata.com/resource/pubmed/chemical/Proteins
pubmed:status
MEDLINE
pubmed:issn
0301-0163
pubmed:author
pubmed-author:BraunReginaR
,
pubmed-author:HuebnerAngelaA
,
pubmed-author:ItayaMM
,
pubmed-author:MunganNeslihan ONO
,
pubmed-author:TopalogluA KemalAK
,
pubmed-author:YukselBilginB
pubmed:copyrightInfo
Copyright 2004 S. Karger AG, Basel
pubmed:issnType
Print
pubmed:volume
61
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
3-6
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed-meshheading:14646395-Adrenal Insufficiency
,
pubmed-meshheading:14646395-Child
,
pubmed-meshheading:14646395-Child, Preschool
,
pubmed-meshheading:14646395-Chromosomes, Human, Pair 12
,
pubmed-meshheading:14646395-Esophageal Achalasia
,
pubmed-meshheading:14646395-Exons
,
pubmed-meshheading:14646395-Female
,
pubmed-meshheading:14646395-Genes, Recessive
,
pubmed-meshheading:14646395-Humans
,
pubmed-meshheading:14646395-Lacrimal Apparatus Diseases
,
pubmed-meshheading:14646395-Male
,
pubmed-meshheading:14646395-Mutation, Missense
,
pubmed-meshheading:14646395-Nerve Tissue Proteins
,
pubmed-meshheading:14646395-Nuclear Pore Complex Proteins
,
pubmed-meshheading:14646395-Proteins
,
pubmed-meshheading:14646395-Syndrome
pubmed:year
2004
pubmed:articleTitle
Three children with triple A syndrome due to a mutation (R478X) in the AAAS gene.
pubmed:affiliation
Division of Pediatric Endocrinology and Metabolism, Cukurova University, Faculty of Medicine, Adana, Turkey. byuksel@cu.edu.tr
pubmed:publicationType
Journal Article
,
Case Reports