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12750732
Source:
http://linkedlifedata.com/resource/pubmed/id/12750732
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Statements in which the resource exists as a subject.
Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0026882
,
umls-concept:C0205314
,
umls-concept:C0679622
,
umls-concept:C1260899
,
umls-concept:C1335641
,
umls-concept:C1882417
pubmed:issue
2
pubmed:dateCreated
2003-5-16
pubmed:abstractText
A total of 25% of patients presenting with Diamond-Blackfan anemia (DBA) carry mutations in the rps19 gene, which encodes protein RPS19 of the small ribosomal subunit. The other DBA cases carry mutations in other, unknown gene(s).
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/100965523
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/Ribosomal Proteins
,
http://linkedlifedata.com/resource/pubmed/chemical/ribosomal protein S19
pubmed:status
MEDLINE
pubmed:issn
1466-4860
pubmed:author
pubmed-author:Da CostaLydieL
,
pubmed-author:DelaunayJeanJ
,
pubmed-author:LandoisAnaelyA
,
pubmed-author:ProustAlexisA
,
pubmed-author:RincePatriciaP
,
pubmed-author:SHIP Working Group on DBA
,
pubmed-author:TamaryHannahH
,
pubmed-author:TcherniaGilG
,
pubmed-author:ZaizovRinaR
pubmed:issnType
Print
pubmed:volume
4
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
132-6
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:12750732-Anemia, Diamond-Blackfan
,
pubmed-meshheading:12750732-DNA Mutational Analysis
,
pubmed-meshheading:12750732-Exons
,
pubmed-meshheading:12750732-Family Health
,
pubmed-meshheading:12750732-Humans
,
pubmed-meshheading:12750732-Infant
,
pubmed-meshheading:12750732-Infant, Newborn
,
pubmed-meshheading:12750732-Introns
,
pubmed-meshheading:12750732-Mutation
,
pubmed-meshheading:12750732-Pedigree
,
pubmed-meshheading:12750732-Phenotype
,
pubmed-meshheading:12750732-Polymorphism, Genetic
,
pubmed-meshheading:12750732-Ribosomal Proteins
pubmed:year
2003
pubmed:articleTitle
Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene.
pubmed:affiliation
Service d'Hématologie, d'Immunlogie et de Cytogénétique, Hôpital de Bicêtre, AP-HP, Faculté de Médecine Paris-Sud, France.
pubmed:publicationType
Journal Article
,
Research Support, Non-U.S. Gov't