A knockin mouse model of the Bardet–Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

Bardet–Biedl syndrome (BBS) is a genetically heterogeneous disorder that results in retinal degeneration, obesity, cognitive impairment, polydactyly, renal abnormalities, and hypogenitalism. Of the 12 known BBS genes, BBS1 is the most commonly mutated, and a single missense mutation (M390R) accounts...

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Bibliografische gegevens
Hoofdauteurs: Davis, Roger E., Swiderski, Ruth E., Rahmouni, Kamal, Nishimura, Darryl Y., Mullins, Robert F., Agassandian, Khristofor, Philp, Alisdair R., Searby, Charles C., Andrews, Michael P., Thompson, Stewart, Berry, Christopher J., Thedens, Daniel R., Yang, Baoli, Weiss, Robert M., Cassell, Martin D., Stone, Edwin M., Sheffield, Val C.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: National Academy of Sciences 2007
Onderwerpen:
Biological Sciences
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2148305/
https://ncbi.nlm.nih.gov/pubmed/18032602
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0708571104
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