(Q45103812)
Statements
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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 (English)
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Pomponio RJ
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Norrgard KJ
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Hymes J
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Reynolds TR
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Buck GA
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Baumgartner R
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Suormala T
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Wolf B
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1 April 1997
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99
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4
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506-512
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Identifiers
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