Source:http://linkedlifedata.com/resource/pubmed/id/21057501
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
12
|
| pubmed:dateCreated |
2010-11-24
|
| pubmed:abstractText |
We used resequencing and genotyping in African Americans with sickle cell anemia (SCA) to characterize associations with fetal hemoglobin (HbF) levels at the BCL11A, HBS1L-MYB and ?-globin loci. Fine-mapping of HbF association signals at these loci confirmed seven SNPs with independent effects and increased the explained heritable variation in HbF levels from 38.6% to 49.5%. We also identified rare missense variants that causally implicate MYB in HbF production.
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| pubmed:grant | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Dec
|
| pubmed:issn |
1546-1718
|
| pubmed:author | |
| pubmed:issnType |
Electronic
|
| pubmed:volume |
42
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
1049-51
|
| pubmed:meshHeading |
pubmed-meshheading:21057501-African Americans,
pubmed-meshheading:21057501-Anemia, Sickle Cell,
pubmed-meshheading:21057501-Base Sequence,
pubmed-meshheading:21057501-Fetal Hemoglobin,
pubmed-meshheading:21057501-Genetic Loci,
pubmed-meshheading:21057501-Genome, Human,
pubmed-meshheading:21057501-Humans,
pubmed-meshheading:21057501-Mutation, Missense,
pubmed-meshheading:21057501-Physical Chromosome Mapping,
pubmed-meshheading:21057501-Polymorphism, Single Nucleotide
|
| pubmed:year |
2010
|
| pubmed:articleTitle |
Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation.
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| pubmed:affiliation |
Montreal Heart Institute, Montréal, Québec, Canada.
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
|