书目名称 | The Role of Pendrin in Health and Disease |
副标题 | Molecular and Functi |
编辑 | Silvia Dossena,Markus Paulmichl |
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概述 | Written by experts in pendrin research.Provides readers with detailed knowledge about pendrin genetics, structure and pharmacology.Helps in understanding the molecular mechanisms of pendrin related di |
图书封面 |  |
描述 | .This book reviews the current state of knowledge on the genetics, molecular biology and physiology of pendrin, with a particular focus on pendrin dysfunction and the consequences for human health. .Pendrin is a membrane transport protein expressed in the thyroid, inner ear, kidney and airways, and was recently found in a variety of other tissues and organs. Pendrin malfunction may cause a genetic disease called Pendred syndrome or non-syndromic deafness..The book provides a thorough description of the multifaceted role of pendrin in human health and disease. As such, it offers an invaluable tool for physiology and pathology researchers, while also providing essential guidance for otorhinolaryngologists and endocrinologists in the diagnosis of Pendred syndrome and pendrin-related deafness.. |
出版日期 | Book 2017 |
关键词 | Deafness; Enlarged Vestibular Aqueduct; Pendred syndrome; Pendrin; SLC26A4; Thyroid dysfunction |
版次 | 1 |
doi | https://doi.org/10.1007/978-3-319-43287-8 |
isbn_softcover | 978-3-319-82780-3 |
isbn_ebook | 978-3-319-43287-8 |
copyright | Springer International Publishing Switzerland 2017 |