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Results 11 - 20 of 34 for Leukoencephalopathy with vanishing white matter 5
  1. EIF2B4 gene 
    The EIF2B4 gene provides instructions for making one of five parts of a protein called eIF2B, specifically the delta subunit of this protein. The eIF2B protein ...
    https://medlineplus.gov/genetics/gene/eif2b4 - Genetics
  2. 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
  3. 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
  4. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 
    ... 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/...nd-brainstem-involvement-and-high-lactate - Genetics
  5. 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
  6. TUBB4A-related leukodystrophy 
    ... the beta-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. Am J Hum Genet. 2013 May 2;92(5):767-73. doi: 10.1016/j.ajhg.2013. ...
    https://medlineplus.gov/.../condition/tubb4a-related-leukodystrophy - Genetics
  7. TUBB4A gene 
    ... the beta-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. Am J Hum Genet. 2013 May 2;92(5):767-73. doi: 10.1016/j.ajhg.2013. ...
    https://medlineplus.gov/genetics/gene/tubb4a - Genetics
  8. Leukoencephalopathy with vanishing white matter 
    ... EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 genes cause leukoencephalopathy with vanishing white matter.The EIF2B1, EIF2B2, EIF2B3, EIF2B4 and EIF2B5 genes provide instructions for making the five parts (subunits) of a protein called eIF2B. The ...
    https://medlineplus.gov/...ncephalopathy-with-vanishing-white-matter - Genetics
  9. NOTCH3 gene 
    ... Cerebral autosomal dominant arteriopathy with subcortical infarcts and ... 2016 Jun 23 [updated 2022 May 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon ...
    https://medlineplus.gov/genetics/gene/notch3 - Genetics
  10. CLCN2-related leukoencephalopathy 
    ... His590Pro) is associated with a subclinical form of leukoencephalopathy with ... Front Physiol. 2014 Oct 7;5:378. doi: 10.3389/fphys.2014.00378. eCollection ...
    https://medlineplus.gov/.../clcn2-related-leukoencephalopathy - Genetics
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