Journal article icon

Journal article

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

Abstract:

We developed a series of interrelated locus-specific databases to store all published and unpublished genetic variation related to hemoglobinopathies and thalassemia and implemented microattribution to encourage submission of unpublished observations of genetic variation to these public repositories. A total of 1,941 unique genetic variants in 37 genes, encoding globins and other erythroid proteins, are currently documented in these databases, with reciprocal attribution of microcitations to ...

Expand abstract

Actions


Access Document


Publisher copy:
10.1038/ng.785

Authors


More by this author
Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
Weatherall Insti. of Molecular Medicine
Role:
Author
Expand authors...
Journal:
Nature Genetics
Volume:
43
Issue:
4
Pages:
295-302
Publication date:
2011-02-01
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
Source identifiers:
135226
Language:
English
Pubs id:
pubs:135226
UUID:
uuid:6d7e64b9-95d0-4a22-81d4-74231b8c67fb
Local pid:
pubs:135226
Deposit date:
2012-12-19

Terms of use


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP