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Results 1 - 10 of 14 for Residue
  1. 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
  2. DLAT gene 
    ... dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial DLTA ...
    https://medlineplus.gov/genetics/gene/dlat - Genetics
  3. EPAS1 gene 
    ... HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline. J Biol ...
    https://medlineplus.gov/genetics/gene/epas1 - Genetics
  4. 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
  5. APOA1 gene 
    ... transporter A1 (ABCA1)-mediated lipid efflux. Amino acid residues 220-231 of the wild-type ApoA-I ...
    https://medlineplus.gov/genetics/gene/apoa1 - Genetics
  6. KCNJ2 gene 
    ... Escolar DM, Fu YH, Ptacek LJ. PIP2 binding residues of Kir2.1 are common targets of mutations ...
    https://medlineplus.gov/genetics/gene/kcnj2 - Genetics
  7. 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
  8. 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
  9. 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
  10. 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
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