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- ... in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase. Hum Genet. ...
- ... in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase. Hum Genet. ...
- ... delete part or all of the gene and abolish REP-1 protein production. A lack of normal ...
- ... Gentleman S. Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual ...
- ... McLean WH. A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling ...
- ... mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the ...
- ... MH, Seiboth G, Gecz J. ARX homeodomain mutations abolish DNA binding and lead to a loss of ...
- ... intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking. Hum Mutat. 2007 Aug;28(8): ...
- ... McLean WH. A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling ...
- ... mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the ...