(Q40600556)
Statements
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Two intronic mutations cause 17-hydroxylase deficiency by disrupting splice acceptor sites: direct demonstration of aberrant splicing and absent enzyme activity by expression of the entire CYP17 gene in HEK-293 cells (English)
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Marivania Costa-Santos
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Claudio E Kater
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Eduardo P Dias
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Richard J Auchus
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1 January 2004
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89
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1
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43-48
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Identifiers
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