Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I

Hereditary sensory neuropathy type I (HSN I) is an axonal form of autosomal-dominant hereditary motor and sensory neuropathy distinguished by prominent sensory loss that leads to painless injuries. Unrecognized, these can result in delayed wound healing and osteomyelitis, necessitating distal amputa...

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Bibliografiske detaljer
Main Authors: Guelly, Christian, Zhu, Peng-Peng, Leonardis, Lea, Papić, Lea, Zidar, Janez, Schabhüttl, Maria, Strohmaier, Heimo, Weis, Joachim, Strom, Tim M., Baets, Jonathan, Willems, Jan, De Jonghe, Peter, Reilly, Mary M., Fröhlich, Eleonore, Hatz, Martina, Trajanoski, Slave, Pieber, Thomas R., Janecke, Andreas R., Blackstone, Craig, Auer-Grumbach, Michaela
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2011
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Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3014370/
https://ncbi.nlm.nih.gov/pubmed/21194679
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.12.003
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