A Mutation in CABP2, Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment

CaBPs are a family of Ca(2+)-binding proteins related to calmodulin and are localized in the brain and sensory organs, including the retina and cochlea. Although their physiological roles are not yet fully elucidated, CaBPs modulate Ca(2+) signaling through effectors such as voltage-gated Ca(v) Ca(2...

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Main Authors: Schrauwen, Isabelle, Helfmann, Sarah, Inagaki, Akira, Predoehl, Friederike, Tabatabaiefar, Mohammad Amin, Picher, Maria Magdalena, Sommen, Manou, Seco, Celia Zazo, Oostrik, Jaap, Kremer, Hannie, Dheedene, Annelies, Claes, Charlotte, Fransen, Erik, Chaleshtori, Morteza Hashemzadeh, Coucke, Paul, Lee, Amy, Moser, Tobias, Van Camp, Guy
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3484643/
https://ncbi.nlm.nih.gov/pubmed/22981119
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.08.018
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