(Q34150380)

31 July 2017

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title

A new insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency (English)

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31 July 2017

author

Marie-Louise Ricketts

2

object named as

Ricketts ML

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8 November 2018

1

Simard J

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31 July 2017

Moisan AM

3

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31 July 2017

Tardy V

4

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31 July 2017

Peter M

5

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31 July 2017

Van Vliet G

6

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31 July 2017

Morel Y

7

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31 July 2017

publication date

1 November 2000

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31 July 2017

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31 July 2017

volume

26

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31 July 2017

issue

4

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31 July 2017

page(s)

761-770

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Full length cDNA structure and deduced amino acid sequence of human 3 beta-hydroxy-5-ene steroid dehydrogenase

31 July 2017

cites work

1 reference

https://api.crossref.org/works/10.3109%2F07435800009048597

Structure and expression of a new complementary DNA encoding the almost exclusive 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase in human adrenals and gonads

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07435800009048597

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07435800009048597

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07435800009048597

Functional characterization of the novel L108W and P186L mutations detected in the type II 3 beta-hydroxysteroid dehydrogenase gene of a male pseudohermaphrodite with congenital adrenal hyperplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07435800009048597

11 beta-hydroxysteroid dehydrogenase and the short-chain alcohol dehydrogenase (SCAD) superfamily

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07435800009048597

Site-directed mutagenesis identifies amino acid residues associated with the dehydrogenase and isomerase activities of human type I (placental) 3beta-hydroxysteroid dehydrogenase/isomerase.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07435800009048597

Functional activity of 3beta-hydroxysteroid dehydrogenase/isomerase

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07435800009048597

Phenotypic variability and origins of mutations in the gene encoding 3beta-hydroxysteroid dehydrogenase type II

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07435800009048597

10.3109/07435800009048597

21 January 2018

Identifiers

DOI

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31 July 2017

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