Congenital adrenal hyperplasia owing to 3 beta-hydroxysteroid dehydrogenase deficiency (Q34246296)

31 July 2017

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title

Congenital adrenal hyperplasia owing to 3 beta-hydroxysteroid dehydrogenase deficiency (English)

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congenital adrenal hyperplasia

31 July 2017

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Pang S

1

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31 July 2017

publication date

1 March 2001

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Endocrinology and Metabolism Clinics of North America

31 July 2017

published in

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31 July 2017

volume

30

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31 July 2017

issue

1

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31 July 2017

page(s)

81-99, vi-vii

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Metabolism of dehydroepiandrosterone by hormone dependent and hormone independent human breast carcinoma

31 July 2017

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Mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene in a patient with classic salt-wasting 3 beta-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia

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Secondary biosynthetic defects in women with late-onset congenital adrenal hyperplasia

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Abnormal Adrenal Responses to Adrenocorticotropic Hormone in Hyperandrogenic Women

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Plasma and urinary steroids in an eight-year-old boy with 3-beta-hydxysteroid dehydrogenase deficiency

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A novel missense mutation in the type II 3β-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency

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New Insight into the Molecular Basis of 3 -Hydroxysteroid Dehydrogenase Deficiency: Identification of Eight Mutations in the HSD3B2 Gene in Eleven Patients from Seven New Families and Comparison of the Functional Properties of Twenty-Five Mutant Enzy

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Congenital adrenal hyperplasia

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Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene

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Molecular basis of congenital adrenal hyperplasia in two siblings with classical nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency

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Identification and characterization of the G15D mutation found in a male patient with 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency: alteration of the putative NAD-binding domain of type II 3 beta-HSD.

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Molecular basis of congenital adrenal hyperplasia due to 3 beta- hydroxysteroid dehydrogenase deficiency

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Congenital adrenal hyperplasia caused by a novel homozygous frameshift mutation 273 delta AA in type II 3 beta-hydroxysteroid dehydrogenase gene (HSD3B2) in three male patients of Afghan/Pakistani origin

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DOI

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31 July 2017

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