Species differences in the expression of AHI1, a protein implicated in the neurodevelopmental disorder Joubert syndrome, with preferential accumulation to stigmoid bodies

Joubert syndrome (JBTS) is an autosomal recessive disorder characterized by cerebellum and brainstem malformations. Individuals with JBTS have abnormal breathing and eye movements, ataxia, hypotonia, and cognitive difficulty, and they display mirror movements. Mutations in the Abelson-helper integra...

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Autores principales: Doering, Jennifer E., Kane, Kelly, Hsiao, Yi-Chun, Yao, Cong, Shi, Bingxing, Slowik, Amber D., Dhagat, Bakul, Scott, Delisha D., Ault, Jeffrey G., Page-McCaw, Patrick S., Ferland, Russell J.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2008
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2600576/
https://ncbi.nlm.nih.gov/pubmed/18785627
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/cne.21824
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