Characterization of the molecular genetic pathology in patients with 11β-hydroxylase deficiency (Q40859649)

24 September 2017

Characterization of the molecular genetic pathology in patients with 11β-hydroxylase deficiency (English)

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24 September 2017

1

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13 June 2020

Angela. E. Taylor

4

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13 June 2020

David W. Ray

8

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13 June 2020

Nils Krone

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13 June 2020

9

Wiebke Arlt

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13 June 2020

2

Silvia Parajes

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13 June 2020

author name string

Ian T Rose

3

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13 June 2020

Taner Bayraktaroglu

5

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13 June 2020

John A H Wass

6

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13 June 2020

John M C Connell

7

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publication date

6 June 2015

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24 September 2017

Clinical Endocrinology

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13 June 2020

volume

83

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13 June 2020

issue

5

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13 June 2020

page(s)

629-635

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CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency

13 June 2020

cites work

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Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency

21 January 2018

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A diagnosis not to be missed: nonclassic steroid 11β-hydroxylase deficiency presenting with premature adrenarche and hirsutism

21 January 2018

1 reference

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations

21 January 2018

1 reference

Congenital adrenal hyperplasia.

21 January 2018

1 reference

Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients

21 January 2018

1 reference

A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin

21 January 2018

1 reference

Premature adrenarche: novel lessons from early onset androgen excess

21 January 2018

1 reference

Congenital adrenal hyperplasia and P450 oxidoreductase deficiency

21 January 2018

1 reference

Nonclassic adrenal hyperplasia

21 January 2018

1 reference

A prospective study of the prevalence of nonclassical congenital adrenal hyperplasia among women presenting with hyperandrogenic symptoms and signs.

21 January 2018

1 reference

Gas chromatography/mass spectrometry (GC/MS) remains a pre-eminent discovery tool in clinical steroid investigations even in the era of fast liquid chromatography tandem mass spectrometry (LC/MS/MS).

21 January 2018

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11Beta-hydroxylase deficiency and other syndromes of mineralocorticoid excess as a rare cause of endocrine hypertension.

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CEN.12834

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13 June 2020

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