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12031592
Source:
http://linkedlifedata.com/resource/pubmed/id/12031592
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Statements in which the resource exists as a subject.
Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0015295
,
umls-concept:C0026882
,
umls-concept:C0205314
,
umls-concept:C0221018
,
umls-concept:C0679622
,
umls-concept:C1274040
,
umls-concept:C1412331
pubmed:issue
1-2
pubmed:dateCreated
2002-5-28
pubmed:abstractText
Mutations in the erythroid-specific 5-aminolevulinate-synthase gene (ALAS2) have been identified in many cases of X-linked sideroblastic anemia (XLSA).
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/1302422
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/5-Aminolevulinate Synthetase
,
http://linkedlifedata.com/resource/pubmed/chemical/Isoenzymes
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0009-8981
pubmed:author
pubmed-author:AltmanArnoldA
,
pubmed-author:HurfordMatthew TMT
,
pubmed-author:Marshall-TaylorCristinaC
,
pubmed-author:RezukeWilliam NWN
,
pubmed-author:SilvermanLawrence MLM
,
pubmed-author:TsongalisGregory JGJ
,
pubmed-author:VickiSandy LSL
,
pubmed-author:ZhouJackie ZJZ
pubmed:issnType
Print
pubmed:volume
321
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
49-53
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed-meshheading:12031592-5-Aminolevulinate Synthetase
,
pubmed-meshheading:12031592-Anemia, Sideroblastic
,
pubmed-meshheading:12031592-Base Sequence
,
pubmed-meshheading:12031592-Child, Preschool
,
pubmed-meshheading:12031592-Consanguinity
,
pubmed-meshheading:12031592-DNA Mutational Analysis
,
pubmed-meshheading:12031592-Erythrocytes
,
pubmed-meshheading:12031592-Exons
,
pubmed-meshheading:12031592-Female
,
pubmed-meshheading:12031592-Genetic Linkage
,
pubmed-meshheading:12031592-Humans
,
pubmed-meshheading:12031592-Isoenzymes
,
pubmed-meshheading:12031592-Male
,
pubmed-meshheading:12031592-Molecular Sequence Data
,
pubmed-meshheading:12031592-Mutation, Missense
,
pubmed-meshheading:12031592-Polymorphism, Restriction Fragment Length
,
pubmed-meshheading:12031592-X Chromosome
pubmed:year
2002
pubmed:articleTitle
A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia.
pubmed:affiliation
Department of Pathology and Laboratory Medicine, Hartford Hospital, 80 Seymour Street, Hartford, CT 06102, USA.
pubmed:publicationType
Journal Article
,
Case Reports