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Results 1 - 10 of 123 for Adult
  1. FOLR1 gene 
    ... folate transport deficiency. More About This Health Condition adult folate-binding protein FBP folate binding protein folate receptor 1 (adult) folate receptor alpha folate receptor, adult FOLR FR- ...
    https://medlineplus.gov/genetics/gene/folr1 - Genetics
  2. SOD1 gene 
    ... superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult)) superoxide dismutase, cystolic superoxide dismutase-1, soluble Tests ...
    https://medlineplus.gov/genetics/gene/sod1 - Genetics
  3. GBE1 gene 
    ... the GBE1 gene have been found to cause adult polyglucosan body disease, a condition that affects the ... written Tyr329Ser or Y329S). Most mutations that cause adult polyglucosan body disease lead to a shortage (deficiency) ...
    https://medlineplus.gov/genetics/gene/gbe1 - Genetics
  4. SLC25A13 gene 
    ... SLC25A13 gene have been identified in people with adult-onset type II citrullinemia. This condition causes neurological ... behaviors and other neurological problems in people with adult-onset type II citrullinemia.Mutations in the SLC25A13 ...
    https://medlineplus.gov/genetics/gene/slc25a13 - Genetics
  5. CHRNE gene 
    ... type that is present before birth and an adult type. The ε subunit is found only in the adult AChR protein. At about the 33rd week of ... subunit (found only in fetal AChR) to form adult AChR protein. More than 90 mutations in the ...
    https://medlineplus.gov/genetics/gene/chrne - Genetics
  6. BEST1 gene 
    ... the disorder (known as Best disease) or the adult-onset form. Both types of vitelliform macular dystrophy ... juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular ...
    https://medlineplus.gov/genetics/gene/best1 - Genetics
  7. MT-ND1 gene 
    ... has been reported in a few cases of adult-onset dystonia. Dystonia is a movement disorder that ... environmental factors to increase the risk of developing adult-onset dystonia. mitochondrially encoded NADH dehydrogenase 1 MTND1 ...
    https://medlineplus.gov/genetics/gene/mt-nd1 - Genetics
  8. DUX4 gene 
    ... The DUX4 gene is also silenced in most adult cells and tissues, although it is active during early development and in the testes of adult males. Little is known about the function of ...
    https://medlineplus.gov/genetics/gene/dux4 - Genetics
  9. CLN6 gene 
    ... in children with CLN6 disease than in affected adults. More About This Health Condition ceroid-lipofuscinosis neuronal ... Bahlo M, Berkovic SF. Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations ...
    https://medlineplus.gov/genetics/gene/cln6 - Genetics
  10. AMACR gene 
    ... have later developed the neurological symptoms seen in adults with AMACR deficiency. 2-methylacyl-CoA racemase AMACR_ ... gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. Nat Genet. 2000 Feb; ...
    https://medlineplus.gov/genetics/gene/amacr - Genetics
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