Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children

Robert J. Pomponio, Karen J. Norrgard, Jeanne Hymes, Thomas R. Reynolds, Gregory A. Buck, Regula Baumgartner, Terttu Suormala, Barry Wolf*

*Corresponding author for this work

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