(Q57632680)

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Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficiency in patients harbouring a P30L mutation

scientific article published on 01 February 2005

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15670187%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficiency in patients harbouring a P30L mutation (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15670187%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Berenice Bilharinho Mendonça

4

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7 January 2020

5

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7 January 2020

author name string

Guiomar Madureira

3

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7 January 2020

Rogério S Araujo

1

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7 January 2020

Ana Elisa C Billerbeck

2

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7 January 2020

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1 February 2005

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7 January 2020

Clinical Endocrinology

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Europe PubMed Central

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7 January 2020

62

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7 January 2020

2

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7 January 2020

132-136

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7 January 2020

Frequency of CYP21 gene mutations in Czech patients with steroid 21-hydroxylase deficiency and statistical comparison with other populations.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02184.X

21 January 2018

Congenital adrenal hyperplasia.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02184.X

21 January 2018

Three novel mutations in Japanese patients with 21-hydroxylase deficiency.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02184.X

21 January 2018

Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02184.X

21 January 2018

Molecular Genotyping in Brazilian Patients with the Classical and Nonclassical Forms of 21-Hydroxylase Deficiency

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02184.X

21 January 2018

A Novel Missense Mutation, GLY424SER, in Brazilian Patients with 21-Hydroxylase Deficiency

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02184.X

21 January 2018

Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02184.X

21 January 2018

Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02184.X

21 January 2018

Difference in transcriptional activity of two homologous CYP21A genes

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02184.X

21 January 2018

The -104G nucleotide of the human CYP21 gene is important for CYP21 transcription activity and protein interaction

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02184.X

21 January 2018

Low frequency of CYP2B deletions in Brazilian patients with congenital adrenal hyperplasia due to 21-hydroxylas deficiency.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02184.X

21 January 2018

Identifiers

10.1111/J.1365-2265.2005.02184.X

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15670187%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15670187%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

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