Distal truncation of KCC3 in non-French Canadian HMSN/ACC families

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) is a severe and progressive autosomal recessive polyneuropathy. Mutations in the potassium-chloride cotransporter 3 gene (KCC3) were identified as responsible for HMSN/ACC in the French Canadian (FC) population....

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Neurology 2007-09, Vol.69 (13), p.1350-1355
Hauptverfasser:	Salin-Cantegrel, A, Rivière, J-B, Dupré, N, Charron, F M, Shekarabi, M, Karéméra, L, Gaspar, C, Horst, J, Tekin, M, Deda, G, Krause, A, Lippert, M M, Willemsen, M A A P, Jarrar, R, Lapointe, J-Y, Rouleau, G A
Format:	Artikel
Sprache:	eng
Schlagworte:	Agenesis of Corpus Callosum Animals Cell Membrane - genetics Cell Membrane - metabolism DNA Mutational Analysis European Continental Ancestry Group Exons - genetics Female Genetic Predisposition to Disease - genetics Genetic Testing Genotype Haplotypes Hereditary Sensory and Autonomic Neuropathies - ethnology Hereditary Sensory and Autonomic Neuropathies - genetics Hereditary Sensory and Autonomic Neuropathies - physiopathology Humans Inheritance Patterns Male Mutation - genetics Nervous System Malformations - ethnology Nervous System Malformations - genetics Nervous System Malformations - physiopathology Oocytes Pedigree Quebec Symporters - chemistry Symporters - genetics Xenopus laevis
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!