Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms
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چکیده
منابع مشابه
Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms
More than 50% of transitional cell carcinomas of the bladder show loss of heterozygosity of a region spanning the TSC1 locus at 9q34 and mutations of TSC1 have been identified in 14.5% of tumours. These comprise nonsense mutations, splicing mutations, small deletions and missense mutations. Missense mutations are only rarely found in the germline in TSC disease. Therefore, we have examined six ...
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1. Snape KM, Ruddy D, Zenker M et al. The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. Am J Med Genet A 2009: 149A (8): 1860–1881. 2. Hassed SJ, Wiley GB, Wang S et al. RBPJ mutations identified in two families affected by Adams-Oliver syndrome. Am J Hum Genet 2012: 91 (2): 391–395. 3. Southgate L, Sukalo M, Karountzos AS et al. Haploinsufficie...
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ژورنال
عنوان ژورنال: Neuron
سال: 2020
ISSN: 0896-6273
DOI: 10.1016/j.neuron.2020.02.021