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

• Autores principales: Marta Chaverra (Autor), Lynn George (Autor), Marc Mergy (Autor), Hannah Waller (Autor), Katharine Kujawa (Autor), Connor Murnion (Autor), Ezekiel Sharples (Autor), Julian Thorne (Autor), Nathaniel Podgajny (Autor), Andrea Grindeland (Autor), Yumi Ueki (Autor), Steven Eiger (Autor), Cassie Cusick (Autor), A. Michael Babcock (Autor), George A. Carlson (Autor), Frances Lefcort (Autor)
• Formato: Libro
• Publicado: The Company of Biologists, 2017-05-01T00:00:00Z.
• Materias: article
• Acceso en línea: Connect to this object online.

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...