Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet–Biedl syndrome gene (BBS11)

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...

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Detalhes bibliográficos
Main Authors: 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., Sheffield, Val C.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2006
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1458870/
https://ncbi.nlm.nih.gov/pubmed/16606853
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0600158103
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