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The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement.
Ishiura H, Sako W, Yoshida M, Kawarai T, Tanabe O, Goto J, Takahashi Y, Date H, Mitsui J, Ahsan B, Ichikawa Y, Iwata A, Yoshino H, Izumi Y, Fujita K, Maeda K, Goto S, Koizumi H, Morigaki R, Ikemura M, Yamauchi N, Murayama S, Nicholson GA, Ito H, Sobue G, Nakagawa M, Kaji R, Tsuji S. Ishiura H, et al. Among authors: iwata a. Am J Hum Genet. 2012 Aug 10;91(2):320-9. doi: 10.1016/j.ajhg.2012.07.014. Am J Hum Genet. 2012. PMID: 22883144 Free PMC article.
CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy.
Mitsui J, Matsukawa T, Ishiura H, Higasa K, Yoshimura J, Saito TL, Ahsan B, Takahashi Y, Goto J, Iwata A, Niimi Y, Riku Y, Goto Y, Mano K, Yoshida M, Morishita S, Tsuji S. Mitsui J, et al. Among authors: iwata a. Am J Med Genet B Neuropsychiatr Genet. 2012 Dec;159B(8):951-7. doi: 10.1002/ajmg.b.32100. Epub 2012 Oct 4. Am J Med Genet B Neuropsychiatr Genet. 2012. PMID: 23038421
759 results