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Dokumenttyp:
journal article 
Autor(en):
Schabhüttl, Maria; Wieland, Thomas; Senderek, Jan; Baets, Jonathan; Timmerman, Vincent; De Jonghe, Peter; Reilly, Mary M; Stieglbauer, Karl; Laich, Eva; Windhager, Reinhard; Erwa, Wolfgang; Trajanoski, Slave; Strom, Tim M; Auer-Grumbach, Michaela 
Titel:
Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges. 
Abstract:
Inherited peripheral neuropathies (IPN) are one of the most frequent inherited causes of neurological disability characterized by considerable phenotypic and genetic heterogeneity. Based on clinical and electrophysiological properties, they can be subdivided into three main groups: HMSN, dHMN, and HSN. At present, more than 50 IPN genes have been identified. Still, many patients and families with IPN have not yet received a molecular genetic diagnosis because clinical genetic testing usually onl...    »
 
Zeitschriftentitel:
J Neurol 
Jahr:
2014 
Band / Volume:
261 
Heft / Issue:
Seitenangaben Beitrag:
970-82 
Sprache:
eng 
Print-ISSN:
0340-5354 
TUM Einrichtung:
Institut für Humangenetik