Homozygosity Mapping with SNP Arrays Identifies TRIM32, an E3 Ubiquitin Ligase, as a Bardet-Biedl Sy...
Homozygosity Mapping with SNP Arrays Identifies TRIM32, an E3 Ubiquitin Ligase, as a Bardet-Biedl Syndrome Gene (BBS11)
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Author / Creator
Chiang, Annie P. , Beck, John S. , Yen, Hsan-Jan , Tayeh, Marwan K. , Scheetz, Todd E. , Swiderski, Ruth E. , Nishimura, Darryl Y. , Braun, Terry A. , Kim, Kwang-Youn A. , Huang, Jian , Elbedour, Khalil , Carmi, Rivka , Slusarski, Diane C. , Casavant, Thomas L. , Stone, Edwin M. and Sheffield, Val C.
Publisher
United States: National Academy of Sciences
Journal title
Language
English
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Publication information
Publisher
United States: National Academy of Sciences
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Scope and Contents
Contents
The identification of mutations in genes that cause human diseases has largely been accomplished through the use of positional cloning, which relies on linkage mapping. In studies of rare diseases, the resolution of linkage mapping is limited by the number of available meioses and informative marker density. One recent advance is the development of...
Alternative Titles
Full title
Homozygosity Mapping with SNP Arrays Identifies TRIM32, an E3 Ubiquitin Ligase, as a Bardet-Biedl Syndrome Gene (BBS11)
Authors, Artists and Contributors
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1458870
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1458870
Other Identifiers
ISSN
0027-8424
E-ISSN
1091-6490
DOI
10.1073/pnas.0600158103
