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Results 1 - 10 of 16 for Kinetic
  1. CACNA1A gene 
    ... T, van den Maagdenberg AM, Pietrobon D. Specific kinetic alterations of human CaV2.1 calcium channels produced ... episodic and progressive ataxia alter channel trafficking and kinetics. Neurology. 2005 Jun 28;64(12):2090-7. ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  2. GSS gene 
    ... A, Norgren S. Human hereditary glutathione synthetase deficiency: kinetic properties of mutant enzymes. Biochem J. 2004 Jul ... Norgren S, Mannervik B, Board PG, Larsson A. Kinetic properties of missense mutations in patients with glutathione ...
    https://medlineplus.gov/genetics/gene/gss - Genetics
  3. PPOX gene 
    ... Klump HH, Davids LM, Kirsch RE, Meissner PN. Kinetic and physical characterisation of recombinant wild-type and ...
    https://medlineplus.gov/genetics/gene/ppox - Genetics
  4. Autosomal recessive axonal neuropathy with neuromyotonia 
    ... Park CJ, Wolfenden R, Adams J, Wagner CR. Kinetic mechanism of human histidine triad nucleotide binding protein ...
    https://medlineplus.gov/...sive-axonal-neuropathy-with-neuromyotonia - Genetics
  5. KCNH2 gene 
    ... HERG mutation predicts short QT based on channel kinetics but causes long QT by heterotetrameric trafficking deficiency. ...
    https://medlineplus.gov/genetics/gene/kcnh2 - Genetics
  6. Deoxyguanosine kinase deficiency 
    ... Mandon G, Zabot MT, Lachaux A, Bozon D. Kinetic properties of mutant deoxyguanosine kinase in a case ...
    https://medlineplus.gov/.../deoxyguanosine-kinase-deficiency - Genetics
  7. HGD gene 
    ... Amaya AA, Brzezinski KT, Farrington N, Moran GR. Kinetic analysis of human homogentisate 1,2-dioxygenase. Arch ...
    https://medlineplus.gov/genetics/gene/hgd - Genetics
  8. PHGDH gene 
    ... throughout the protein and result in altered enzyme kinetics. Hum Mutat. 2009 May;30(5):749-56. ...
    https://medlineplus.gov/genetics/gene/phgdh - Genetics
  9. VDR gene 
    ... Militianu D, Weisman Y, Abrams SA. Calcium absorption, kinetics, bone density, and bone structure in patients with ...
    https://medlineplus.gov/genetics/gene/vdr - Genetics
  10. RPE65 gene 
    ... retinoid cycle of vision but with slow rod kinetics. Proc Natl Acad Sci U S A. 2008 ...
    https://medlineplus.gov/genetics/gene/rpe65 - Genetics
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