Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis

Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of inherited distal symmetric polyneuropathies associated with mutations in genes encoding components essential for normal functioning of the Schwann cell and axon. TRIM2, encoding a ligase that ubiquitinates the neurofilament light chain, w...

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Vydáno v:Hum Genet
Hlavní autoři: Pehlivan, Davut, Akdemir, Zeynep Coban, Karaca, Ender, Bayram, Yavuz, Jhangiani, Shalini, Yildiz, Edibe, Muzny, Donna, Uluc, Kayihan, Gibbs, Richard A., Elcioglu, Nursel, Lupski, James R., Harel, Tamar
Médium: Artigo
Jazyk:Inglês
Vydáno: 2015
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4426057/
https://ncbi.nlm.nih.gov/pubmed/25893792
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-015-1548-3
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