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Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults.

Abstract:

Individual variation in fetal hemoglobin (HbF, alpha(2)gamma(2)) response underlies the remarkable diversity in phenotypic severity of sickle cell disease and beta thalassemia. HbF levels and HbF-associated quantitative traits (e.g., F cell levels) are highly heritable. We have previously mapped a major quantitative trait locus (QTL) controlling F cell levels in an extended Asian-Indian kindred with beta thalassemia to a 1.5-Mb interval on chromosome 6q23, but the causative gene(s) are not kn...

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Publication status:
Published

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Publisher copy:
10.1073/pnas.0611393104

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Journal:
Proceedings of the National Academy of Sciences of the United States of America More from this journal
Volume:
104
Issue:
27
Pages:
11346-11351
Publication date:
2007-07-01
DOI:
EISSN:
1091-6490
ISSN:
0027-8424
Language:
English
Keywords:
Pubs id:
pubs:104816
UUID:
uuid:6890ee51-2ea8-46a8-b9e0-7be294be9918
Local pid:
pubs:104816
Source identifiers:
104816
Deposit date:
2012-12-19

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