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Missense mutations identified in patients manifesting with non-classic StAR deficiency.

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Figshare2015-12-02 更新2026-04-29 收录
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*Mutation on partner allele is given in brackets (p.).**Loss of function mutation manifesting clinically at birth with signs of classic StAR deficiency. Data given for comparison.***In vitro activity (% of WT) is assessed by pregnenolone production (immunoassay) in COS cells transfected with expression vectors for wild-type or mutant StAR and F2 (the fusion protein P450 side-chain cleavage/adrenodoxin/adrenodoxin reductase). Note that data derive from different laboratories employing similar assay systems.
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2015-12-02
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