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Results 1 - 10 of 17 for Leukoencephalopathy with vanishing white matter 5
  1. CSF1R gene 
    ... Wegner A, Sriram S, Pawate S. Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia: report of five cases and a new mutation. J Neurol. 2013 ...
    https://medlineplus.gov/genetics/gene/csf1r - Genetics
  2. POLR3B gene 
    ... Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. Am J Hum Genet. 2011 Nov 11;89(5):644-51. doi: 10.1016/j.ajhg.2011. ...
    https://medlineplus.gov/genetics/gene/polr3b - Genetics
  3. POLR3A gene 
    ... Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. Am J Hum Genet. 2011 Nov 11;89(5):644-51. doi: 10.1016/j.ajhg.2011. ...
    https://medlineplus.gov/genetics/gene/polr3a - Genetics
  4. EIF2B5 gene 
    ... stress, resulting in the signs and symptoms of leukoencephalopathy with vanishing white matter. ... factor 2B, subunit 5 (epsilon, 82kD) eukaryotic translation initiation factor 2B, subunit ...
    https://medlineplus.gov/genetics/gene/eif2b5 - Genetics
  5. RNASET2 gene 
    ... R, Nurnberg P, Gartner J. RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection. Nat Genet. 2009 Jul;41(7):773-5. doi: 10.1038/ng.398. Epub 2009 Jun ...
    https://medlineplus.gov/genetics/gene/rnaset2 - Genetics
  6. NFU1 gene 
    ... M, Farina L, Ghezzi D, Moroni I. Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations. Front Genet. 2014 Nov 20;5:412. doi: 10.3389/fgene.2014.00412. eCollection ...
    https://medlineplus.gov/genetics/gene/nfu1 - Genetics
  7. EIF2B2 gene 
    The EIF2B2 gene provides instructions for making one of five parts of a protein called eIF2B, specifically the beta subunit of this protein. The eIF2B protein ...
    https://medlineplus.gov/genetics/gene/eif2b2 - Genetics
  8. EIF2B1 gene 
    The EIF2B1 gene provides instructions for making one of five parts of a protein called eIF2B, specifically the alpha subunit of this protein. The eIF2B protein ...
    https://medlineplus.gov/genetics/gene/eif2b1 - Genetics
  9. EIF2B3 gene 
    The EIF2B3 gene provides instructions for making one of five parts of a protein called eIF2B, specifically the gamma subunit of this protein. The eIF2B protein ...
    https://medlineplus.gov/genetics/gene/eif2b3 - Genetics
  10. EARS2 gene 
    ... Prokisch H, van der Knaap MS, Zeviani M. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain. 2012 May;135(Pt 5):1387-94. doi: 10.1093/brain/aws070. Epub ...
    https://medlineplus.gov/genetics/gene/ears2 - Genetics
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