(Q45104766)
Statements
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Profound biotinidase deficiency caused by a point mutation that creates a downstream cryptic 3' splice acceptor site within an exon of the human biotinidase gene (English)
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Pomponio RJ
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Reynolds TR
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Mandel H
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Admoni O
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Melone PD
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Buck GA
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Wolf B
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1 May 1997
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6
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5
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739-745
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Identifiers
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