Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II. (Q47979357)

7 February 2018

title

Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II. (English)

1 reference

7 February 2018

author name string

M Peter

1

1 reference

7 February 2018

K Bünger

2

1 reference

7 February 2018

J Sólyom

3

1 reference

7 February 2018

W G Sippell

4

1 reference

7 February 2018

publication date

1 May 1998

1 reference

7 February 2018

European Journal of Pediatrics

published in

1 reference

7 February 2018

volume

157

1 reference

7 February 2018

issue

5

1 reference

7 February 2018

page(s)

378-381

1 reference

7 February 2018

Cloning of cDNA encoding steroid 11 beta-hydroxylase (P450c11)

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS004310050833

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS004310050833

Severe hypoaldosteronism due to corticosterone methyl oxidase type II deficiency in two boys: metabolic and gas chromatography-mass spectrometry studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS004310050833

Cloning and expression of a cDNA for human cytochrome P-450aldo as related to primary aldosteronism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS004310050833

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS004310050833

Congenitally defective aldosterone biosynthesis in humans: inactivation of the P-450C18 gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS004310050833

CMO I deficiency caused by a point mutation in exon 8 of the human CYP11B2 gene encoding steroid 18-hydroxylase (P450C18)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS004310050833

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS004310050833

Congenital hypoaldosteronism: the Visser-Cost syndrome revisited

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS004310050833

Hereditary defect in biosynthesis of aldosterone: aldosterone synthase deficiency 1964-1997

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS004310050833

Crystal structure of the cytochrome P-450CAM active site mutant Thr252Ala

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS004310050833

Crystal structure of hemoprotein domain of P450BM-3, a prototype for microsomal P450's

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS004310050833

Isolated Aldosterone Deficiency in Man: Acquired and Inborn Errors in the Biosynthesis or Action of Aldosterone*

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS004310050833

The amino acid substitutions Ser288Gly and Val320Ala convert the cortisol producing enzyme, CYP11B1, into an aldosterone producing enzyme

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS004310050833

The natural history of salt-wasting disorders of adrenal and renal origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS004310050833

AN ALDOSTERONE BIOSYNTHETIC DEFECT IN A SALT-LOSING DISORDER

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS004310050833

Characterization of two genes encoding human steroid 11 beta-hydroxylase (P-450(11) beta)

21 January 2018

1 reference

12 December 2020

Gene conversion in the CYP11B2 gene encoding P450c11AS is associated with, but does not cause, the syndrome of corticosterone methyloxidase II deficiency

1 reference

12 December 2020

A NEW HEREDITARY DEFECT IN THE BIOSYNTHESIS OF ALDOSTERONE: URINARY C21-CORTICOSTEROID PATTERN IN THREE RELATED PATIENTS WITH A SALT-LOSING SYNDROME, SUGGESTING AN 18-OXIDATION DEFECT

1 reference

12 December 2020

Disorders of steroid 11 beta-hydroxylase isozymes

1 reference

12 December 2020

Amino acid substitution R384P in aldosterone synthase causes corticosterone methyloxidase type I deficiency

1 reference

12 December 2020

Mutation T318M in the CYP11B2 gene encoding P450c11AS (aldosterone synthase) causes corticosterone methyl oxidase II deficiency.

1 reference

12 December 2020

Identifiers

DOI

10.1007/S004310050833

1 reference

7 February 2018

release_qvwcxkrkxbeq5plpoxsniae624

Fatcat ID

0 references

1 reference

7 February 2018