(Q56815767)

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Detection and functional characterization of the novel missense mutation Y254D in type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) gene of a female patient with nonsalt-losing 3 beta HSD deficiency

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title

Detection and functional characterization of the novel missense mutation Y254D in type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) gene of a female patient with nonsalt-losing 3 beta HSD deficiency (English)

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author name string

R. Sanchez

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1

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language of work or name

English

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publication date

1 March 1994

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published in

The Journal of Clinical Endocrinology and Metabolism

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volume

78

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issue

3

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page(s)

561-567

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10.1210/JC.78.3.561

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(Q56815767)

Detection and functional characterization of the novel missense mutation Y254D in type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) gene of a female patient with nonsalt-losing 3 beta HSD deficiency

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