The familial dysautonomia disease gene IKBKAP is required in the developing and adult mouse central nervous system

The familial dysautonomia disease gene IKBKAP is required in the developing and adult mouse central nervous system

Hereditary sensory and autonomic neuropathies (HSANs) are a genetically and clinically diverse group of disorders defined by peripheral nervous system (PNS) dysfunction. HSAN type III, known as familial dysautonomia (FD), results from a single base mutation in the gene IKBKAP that encodes a scaffold...

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Bibliographic Details
Main Authors: Marta Chaverra, Lynn George, Marc Mergy, Hannah Waller, Katharine Kujawa, Connor Murnion, Ezekiel Sharples, Julian Thorne, Nathaniel Podgajny, Andrea Grindeland, Yumi Ueki, Steven Eiger, Cassie Cusick, A. Michael Babcock, George A. Carlson, Frances Lefcort
Format: Article
Language:English
Published: The Company of Biologists 2017-05-01
Series:Disease Models & Mechanisms
Subjects:
Familial dysautonomia
Elongator
Hereditary sensory and autonomic neuropathy
Online Access:http://dmm.biologists.org/content/10/5/605

Internet

http://dmm.biologists.org/content/10/5/605

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