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Results 1 - 10 of 15 for Residue
  1. SLC22A5 gene 
    ... Amat di San Filippo C, Longo N. Tyrosine residues affecting sodium stimulation of carnitine transport in the ...
    https://medlineplus.gov/genetics/gene/slc22a5 - Genetics
  2. KCNH2 gene 
    ... caused by KCNH2 mutations that disrupt conserved arginine residues in the voltage sensor. J Membr Biol. 2013 ...
    https://medlineplus.gov/genetics/gene/kcnh2 - Genetics
  3. Distal hereditary motor neuropathy, type II 
    ... J, De Jonghe P, Timmerman V. Hot-spot residue in small heat-shock protein 22 causes distal ...
    https://medlineplus.gov/...istal-hereditary-motor-neuropathy-type-ii - Genetics
  4. RPE65 gene 
    ... JY, Lu Z, Gentleman S. Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase ...
    https://medlineplus.gov/genetics/gene/rpe65 - Genetics
  5. INS gene 
    ... INS-gene induced diabetes of youth: proinsulin cysteine residues impose dominant-negative inhibition on wild-type proinsulin ...
    https://medlineplus.gov/genetics/gene/ins - Genetics
  6. GSS gene 
    ... VS, Luo JL, Anderson ME. Function of conserved residues of human glutathione synthetase: implications for the ATP- ...
    https://medlineplus.gov/genetics/gene/gss - Genetics
  7. SCN4A gene 
    ... E, Ruben PC. K-aggravated myotonia mutations at residue G1306 differentially alter deactivation gating of human skeletal ...
    https://medlineplus.gov/genetics/gene/scn4a - Genetics
  8. SIX1 gene 
    ... dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans. Eur ...
    https://medlineplus.gov/genetics/gene/six1 - Genetics
  9. MATN3 gene 
    ... Novel mutations in exon 2 of MATN3 affect residues within the alpha-helices of the A-domain ...
    https://medlineplus.gov/genetics/gene/matn3 - Genetics
  10. ALDH18A1 gene 
    ... B, Kornak U. Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a ...
    https://medlineplus.gov/genetics/gene/aldh18a1 - Genetics
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