(Q46604906)

English

Steroid 11-beta-hydroxylase deficiency caused by compound heterozygosity for a novel mutation, p.G314R, in one CYP11B1 allele, and a chimeric CYP11B2/CYP11B1 in the other allele.

scientific article published on 15 July 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:16024935%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Steroid 11-beta-hydroxylase deficiency caused by compound heterozygosity for a novel mutation, p.G314R, in one CYP11B1 allele, and a chimeric CYP11B2/CYP11B1 in the other allele (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16024935%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference

based on heuristic

inferred from title

Bruce H Wolffenbuttel

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16024935%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

author name string

Isao Kuribayashi

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16024935%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Satoshi Nomoto

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16024935%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Guy Massa

3

1 reference

Europe PubMed Central

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31 December 2019

Wilma Oostdijk

4

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31 December 2019

Jan M Wit

5

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Europe PubMed Central

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31 December 2019

Yutaka Shizuta

7

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16024935%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Koichi Honke

8

1 reference

Europe PubMed Central

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31 December 2019

publication date

15 July 2005

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31 December 2019

Hormone Research

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16024935%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

63

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31 December 2019

6

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31 December 2019

284-293

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31 December 2019

Congenital adrenal hyperplasia.

1 reference

https://api.crossref.org/works/10.1159%2F000087074

21 January 2018

Frame shift by insertion of 2 basepairs in codon 394 of CYP11B1 causes congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1159%2F000087074

21 January 2018

CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1159%2F000087074

21 January 2018

Novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency.

1 reference

https://api.crossref.org/works/10.1159%2F000087074

21 January 2018

Bilateral Laparoscopic Adrenalectomy for Congenital Adrenal Hyperplasia with Severe Hypertension, Resulting from Two Novel Mutations in Splice Donor Sites of CYP11B1

1 reference

https://api.crossref.org/works/10.1159%2F000087074

21 January 2018

A novel nonsense mutation in the Cyp11B1 gene from a subject with the steroid 11beta-hydroxylase form of congenital adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1159%2F000087074

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1159%2F000087074

21 January 2018

Inborn errors of aldosterone biosynthesis in humans

1 reference

https://api.crossref.org/works/10.1159%2F000087074

21 January 2018

A missense mutation (GGC[435Gly]-->AGC[Ser]) in exon 8 of the CYP11B2 gene inherited in Japanese patients with congenital hypoaldosteronism

1 reference

https://api.crossref.org/works/10.1159%2F000087074

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1159%2F000087074

21 January 2018

The Fourth Report on the Diagnosis, Evaluation, and Treatment of High Blood Pressure in Children and Adolescents

1 reference

https://api.crossref.org/works/10.1159%2F000087074

21 January 2018

Two distinct enhancers with different cell specificities coexist in the regulatory region of polyoma.

1 reference

https://api.crossref.org/works/10.1159%2F000087074

21 January 2018

A new technique for the assay of infectivity of human adenovirus 5 DNA

1 reference

https://api.crossref.org/works/10.1159%2F000087074

21 January 2018

Frog cytochrome P-450 (11 beta,aldo), a single enzyme involved in the final steps of glucocorticoid and mineralocorticoid biosynthesis.

1 reference

https://api.crossref.org/works/10.1159%2F000087074

21 January 2018

High-resolution crystal structure of cytochrome P450cam

1 reference

https://api.crossref.org/works/10.1159%2F000087074

21 January 2018

A chimaeric llβ-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension

1 reference

https://api.crossref.org/works/10.1159%2F000087074

21 January 2018

Unequal Crossing-Over between Aldosterone Synthase and 11 -Hydroxylase Genes Causes Congenital Adrenal Hyperplasia

1 reference

https://api.crossref.org/works/10.1159%2F000087074

21 January 2018

Comparison of DNA sequences with protein sequences.

1 reference

https://api.crossref.org/works/10.1159%2F000087074

21 January 2018

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