(Q37579085)

21 August 2017

HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation (English)

1 reference

congenital adrenal hyperplasia

21 August 2017

0 references

0 references

1 reference

P. C. White

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6334310

1 October 2023

M. I. New

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6334310

1 October 2023

B. Dupont

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6334310

1 October 2023

language of work or name

English

0 references

publication date

1 December 1984

1 reference

full work available at URL

21 August 2017

https://europepmc.org/articles/pmc392175?pdf=render

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6334310

https://europepmc.org/articles/PMC392175

1 October 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6334310

https://europepmc.org/articles/PMC392175?pdf=render

1 October 2023

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6334310

https://pnas.org/doi/pdf/10.1073/pnas.81.23.7505

1 October 2023

1 reference

Crossref

DOI

10.1073/PNAS.81.23.7505

https://api.crossref.org/works/10.1073/PNAS.81.23.7505

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

1 October 2023

published in

1 reference

21 August 2017

81

1 reference

21 August 2017

23

1 reference

21 August 2017

7505-7509

1 reference

describes a project that uses

21 August 2017

PLH

0 references

cites work

Deoxycorticosterone biosynthesis in human kidney: potential for formation of a potent mineralocorticosteroid in its site of action

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=392175

A highly polymorphic locus in human DNA

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=392175

HLA linkage and B14, DR1, BfS haplotype association with the genes for late onset and cryptic 21-hydroxylase deficiency

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=392175

Cloning and expression of cDNA encoding a bovine adrenal cytochrome P-450 specific for steroid 21-hydroxylation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=392175

Use of a cDNA clone for the fourth component of human complement (C4) for analysis of a genetic deficiency of C4 in guinea pig

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=392175

Molecular map of the murine S region

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=392175

A rapid boiling method for the preparation of bacterial plasmids

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=392175

Detection of specific sequences among DNA fragments separated by gel electrophoresis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=392175

Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=392175

Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency).

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=392175

Prenatal diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency) by HLA typing

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=392175

Improved B Cell Typing for HLA-DR Using Nylon Wool Column Enriched B Lymphocyte Preparations

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=392175

The traditional and a new version of the mouse H-2 complex

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=392175

Genes of the Major Histocompatibility Complex in Mouse and Man

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=392175

Inborn errors of steroid biosynthesis

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=392175

The 21-Hydroxylase Activity in the Glomerulosa and Fasciculata of the Adrenal Cortex in Congenital Adrenal Hyperplasia*

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=392175

Comparison of one-dimensional IEF patterns for serologically detectable HLA-A and B allotypes

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=392175

Studies of the C-21 and C-19 Steroids and HLA Genotyping in Siblings and Parents of Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency*

25 June 2018

1 reference

12 December 2020

Studies on the steroid hydroxylation system in adrenal cortex microsomes. Purification and characterization of cytochrome P-450 specific for steroid C-21 hydroxylation

1 reference

12 December 2020

Identification of rabbit microsomal cytochrome P-450 isozyme, form 1, as a hepatic progesterone 21-hydroxylase

1 reference

12 December 2020

Complement C4 allotypes in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: further evidence for different allelic variants at the 21-hydroxylase locus

1 reference

12 December 2020

Antenatal diagnosis of the haemoglobin disorders by analysis of foetal DNA

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.81.23.7505

1 reference

21 August 2017

0 references

1 reference

21 August 2017

1 reference