Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B2
Variant:p.R384Q
Back to variants list

CYP11B2

NM_000498.3:p.R384Q

Associated Papers

Familial pericentric inversion chromosome 3 and R448C mutation of CYP11B1 gene in Turkish kindred with 11beta-hydroxylase deficiency.

Cingöz S et al.

Journal of Endocrinological Investigation, 2007

[11beta-hydroxylase deficiency].

Mello MP et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2004

Disorders of the aldosterone synthase and steroid 11beta-hydroxylase deficiencies.

Peter M et al.

Hormone Research, 1999

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

Zhang G et al.

American Journal of Human Genetics, 1995

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

Curnow KM et al.

Proceedings of the National Academy of Sciences of the United States of America, 1993

Hormonal hypertension in children: 11beta-hydroxylase deficiency and apparent mineralocorticoid excess.

Cerame BI et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 0

[Substitution hormonal therapy in congenital adrenocortical hyperplasia, caused by 21-hydroxylase deficiency (lecture)].

Tiul'pakov AN

Problemy Endokrinologii, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."