(Q51501829)

6 April 2018

title

Combined 17α-hydroxylase/17,20-lyase deficiency due to p.R96W mutation in the CYP17 gene in a Brazilian patient. (English)

1 reference

6 April 2018

author name string

Fabíola Costenaro

1

1 reference

6 April 2018

Ticiana C Rodrigues

2

1 reference

6 April 2018

Claudio E Kater

3

1 reference

6 April 2018

Richard J Auchus

4

1 reference

6 April 2018

Mahboubeh Papari-Zareei

5

1 reference

6 April 2018

Mauro A Czepielewski

6

1 reference

6 April 2018

publication date

1 November 2010

1 reference

6 April 2018

Arquivos Brasileiros de Endocrinologia e Metabologia

published in

1 reference

6 April 2018

volume

54

1 reference

6 April 2018

issue

8

1 reference

6 April 2018

page(s)

744-748

1 reference

6 April 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000800014

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000800014

The genetics, pathophysiology, and management of human deficiencies of P450c17.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000800014

17-hydroxylation deficiency in man

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000800014

Male pseudohermaphroditism due to 17α-hydroxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000800014

Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000800014

Polymorphisms of the UCP2 gene are associated with proliferative diabetic retinopathy in patients with diabetes mellitus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000800014

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000800014

P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000800014

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000800014

P450c17 deficiency: clinical and molecular characterization of six patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000800014

A novel point mutation in P450c17 (CYP17) causing combined 17alpha-hydroxylase/17,20-lyase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000800014

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000800014

Novel P450c17 mutation H373D causing combined 17alpha-hydroxylase/17,20-lyase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000800014

10.1590/S0004-27302010000800014

21 January 2018

Identifiers

DOI

1 reference

6 April 2018

1 reference

6 April 2018