Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome

Genetic and phenotypic heterogeneity and the lack of sufficiently large patient cohorts pose a significant challenge to understanding genetic associations in rare disease. Here we identify Bsnd (alias Barttin) as a genetic modifier of cystic kidney disease in Joubert syndrome, using a Cep290-deficie...

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Vydáno v:Proc Natl Acad Sci U S A
Hlavní autoři: Ramsbottom, Simon A., Thelwall, Peter E., Wood, Katrina M., Clowry, Gavin J., Devlin, Laura A., Silbermann, Flora, Spiewak, Helena L., Shril, Shirlee, Molinari, Elisa, Hildebrandt, Friedhelm, Gunay-Aygun, Meral, Saunier, Sophie, Cordell, Heather J., Sayer, John A., Miles, Colin G.
Médium: Artigo
Jazyk:Inglês
Vydáno: National Academy of Sciences 2020
Témata:
Biological Sciences
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6969532/
https://ncbi.nlm.nih.gov/pubmed/31879347
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1912602117
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