(Q51734387)

11 April 2018

title

High frequency of Q318X mutation in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in northeast Brazil. (English)

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11 April 2018

congenital adrenal hyperplasia due to 21-hydroxylase deficiency

main subject

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Brazil

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author name string

Viviane C Campos

1

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11 April 2018

Rossana M C Pereira

2

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11 April 2018

Natália Torres

3

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11 April 2018

Margaret de Castro

4

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11 April 2018

Manuel H Aguiar-Oliveira

5

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11 April 2018

publication date

1 February 2009

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11 April 2018

Arquivos Brasileiros de Endocrinologia e Metabologia

published in

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11 April 2018

volume

53

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11 April 2018

issue

1

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11 April 2018

page(s)

40-46

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11 April 2018

The adrenogenital syndrome

cites work

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302009000100007

Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302009000100007

Congenital adrenal hyperplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302009000100007

Congenital adrenal hyperplasia: the molecular basis of 21-hydroxylase deficiency in H-2(aw18) mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302009000100007

Structure of human steroid 21-hydroxylase genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302009000100007

Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302009000100007

Multicentric study of Brazilian patients with 21-hydroxylase deficiency: a genotype-phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302009000100007

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302009000100007

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302009000100007

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302009000100007

Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302009000100007

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302009000100007

Microconversion betweenCYP21A2andCYP21A1PPromoter Regions Causes the Nonclassical Form of 21-Hydroxylase Deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302009000100007

Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302009000100007

10.1590/S0004-27302009000100007

21 January 2018

Identifiers

DOI

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11 April 2018

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11 April 2018