Non-classical 11β-hydroxylase deficiency caused by compound heterozygous mutations: a case study and literature review

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Non-classical 11β-hydroxylase deficiency caused by compound heterozygous mutations: a case study and literature review

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wetenschappelijk artikel

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наукова стаття, опублікована у вересні 2018

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Non-classical 11β-hydroxylase ...... se study and literature review

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Non-classical 11β-hydroxylase ...... se study and literature review

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Non-classical 11β-hydroxylase ...... se study and literature review

@en

Non-classical 11β-hydroxylase ...... se study and literature review

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Non-classical 11β-hydroxylase ...... se study and literature review

@en

Non-classical 11β-hydroxylase ...... se study and literature review

@nl

P1476

Non-classical 11β-hydroxylase ...... se study and literature review

@en

P2093

Dongdong Wang

http://www.w3.org/2001/XMLSchema#string

Jiahui Wang

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Qing Yang

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Tong Tong

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P275

Creative Commons Attribution 4.0 International

P2860

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

Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8

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

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

A Novel Mutation in the CYP11B1 Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible Cardiomyopathy.

What common structural features and variations of mammalian P450s are known to date?

Steroid 11beta- hydroxylase deficiency congenital adrenal hyperplasia.

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

Epidemiology, diagnosis and management of hirsutism: a consensus statement by the Androgen Excess and Polycystic Ovary Syndrome Society.

Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.

P2888

s13048-018-0450-8

P304

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P31

scholarly article

case report

review article

P356

10.1186/S13048-018-0450-8

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P407

English

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P478

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P5008

ScienceSource

P577

2018-09-17T00:00:00Z

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P6179

1107066790

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P698

30223866

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P921

congenital adrenal hyperplasia

cytochromes

congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency

Anzim

hemeprotein

P932

6139905

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