Genetic analysis of the cytochrome P-450c17alpha (CYP17) and aldosterone synthase (CYP11B2) in Japanese patients with 17alpha-hydroxylase deficiency. (Q43650558)

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scientific article published in June 2001

Language	Label	Description	Also known as
English	Genetic analysis of the cytochrome P-450c17alpha (CYP17) and aldosterone synthase (CYP11B2) in Japanese patients with 17alpha-hydroxylase deficiency.	scientific article published in June 2001

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scholarly article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11422109%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

Genetic analysis of the cytochrome P-450c17alpha (CYP17) and aldosterone synthase (CYP11B2) in Japanese patients with 17alpha-hydroxylase deficiency (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11422109%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

3

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8 November 2019

author name string

Y Takeda

1

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8 November 2019

T Yoneda

2

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8 November 2019

K Furukawa

4

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8 November 2019

H Koshida

5

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8 November 2019

I Miyamori

6

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8 November 2019

H Mabuchi

7

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8 November 2019

publication date

1 June 2001

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8 November 2019

Clinical Endocrinology

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8 November 2019

54

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8 November 2019

6

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8 November 2019

751-758

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8 November 2019

17-hydroxylation deficiency in man

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01272.X

21 January 2018

Characterization of complementary deoxyribonucleic acid for human adrenocortical 17 alpha-hydroxylase: a probe for analysis of 17 alpha-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01272.X

21 January 2018

Cytochrome P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): cloning of human adrenal and testis cDNAs indicates the same gene is expressed in both tissues

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01272.X

21 January 2018

Localization of the human CYP17 gene (cytochrome P450(17 alpha)) to 10q24.3 by fluorescence in situ hybridization and simultaneous chromosome banding

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01272.X

21 January 2018

The genetic and functional basis of isolated 17,20-lyase deficiency

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01272.X

21 January 2018

Mutation R96W in cytochrome P450c17 gene causes combined 17 alpha-hydroxylase/17-20-lyase deficiency in two French Canadian patients.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01272.X

21 January 2018

P450c11B3 mRNA, transcribed from a third P450c11 gene, is expressed in a tissue-specific, developmentally, and hormonally regulated fashion in the rodent adrenal and encodes a protein with both 11-hydroxylase and 18-hydroxylase activities

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01272.X

21 January 2018

Congenitally defective aldosterone biosynthesis in humans: the involvement of point mutations of the P-450C18 gene (CYP11B2) in CMO II deficient patients

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01272.X

21 January 2018

Aldosterone biosynthesis in bovine, rat and human adrenal: commonalities and challenges

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01272.X

21 January 2018

Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01272.X

21 January 2018

Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01272.X

21 January 2018

Cloning and sequence of the human gene for P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): similarity with the gene for P450c21

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01272.X

21 January 2018

Regional mapping of genes encoding human steroidogenic enzymes: P450scc to 15q23-q24, adrenodoxin to 11q22; adrenodoxin reductase to 17q24-q25; and P450c17 to 10q24-q25

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01272.X

21 January 2018

Developmental expression of genes for the stereoidogenic enzymes P450scc (20,22-desmolase), P450c17 (17 alpha-hydroxylase/17,20-lyase), and P450c21 (21-hydroxylase) in the human fetus.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01272.X

21 January 2018

Identification of a novel splicing mutation and 1-bp deletion in the 17alpha-hydroxylase gene of Japanese patients with 17alpha-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01272.X

21 January 2018

17 alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01272.X

21 January 2018

Combined 17a- and 18-Hydroxylase Deficiency Associated with Complete Male Pseudohermaphroditism and Hypoaldosteronism*

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01272.X

21 January 2018

Identifiers

10.1046/J.1365-2265.2001.01272.X

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11422109%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11422109%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

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