Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia (Q34566341)

From Wikidata

Jump to navigation Jump to search

scientific article

Language	Label	Description	Also known as
English	Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia	scientific article

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia (English)

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

congenital disorder

0 references

author name string

Y Morel

1

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

J André

2

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

B Uring-Lambert

3

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

G Hauptmann

4

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

H Bétuel

5

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

M Tossi

6

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

M G Forest

7

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

M David

8

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

J Bertrand

9

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

W L Miller

10

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

language of work or name

0 references

publication date

1 February 1989

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Journal of Clinical Investigation

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

83

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

527-536

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

The structural basis of the multiple forms of human complement component C4.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Liver mRNA probes disclose two cytochrome P-450 genes duplicated in tandem with the complement C4 loci of the mouse H-2S region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

The P450 gene superfamily: recommended nomenclature.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Frequent deletion and duplication of the steroid 21-hydroxylase genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Structure of human steroid 21-hydroxylase genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Deletion of the steroid 21-hydroxylase and complement C4 genes in congenital adrenal hyperplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Structure of a bovine gene for P-450c21 (steroid 21-hydroxylase) defines a novel cytochrome P-450 gene family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Molecular and clinical advances in congenital adrenal hyperplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Gene conversions, deletions, and polymorphisms in congenital adrenal hyperplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Characterization of frequent deletions causing steroid 21-hydroxylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Molecular mapping of the human major histocompatibility complex by pulsed-field gel electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Molecular biology of steroid hormone synthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Prevalence of polymorphic 21-hydroxylase gene (CA21HB) mutations in salt-losing congenital adrenal hyperplasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Polymorphism of the human complement C4 and steroid 21-hydroxylase genes. Restriction fragment length polymorphisms revealing structural deletions, homoduplications, and size variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Deletion of complement C4 and steroid 21-hydroxylase genes in the HLA class III region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Genetic differences between the salt-wasting, simple virilizing, and nonclassical types of congenital adrenal hyperplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Synteny mapping of the genes for 21 steroid hydroxylase, alpha A crystallin, and class I bovine leukocyte antigen in cattle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Evidence for frequent gene conversion in the steroid 21-hydroxylase P-450(C21) gene: implications for steroid 21-hydroxylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Coupling of HLA-A3,Cw6,Bw47,DR7 and a normal CA21HB steroid 21-hydroxylase gene in the Old Order Amish

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

The organization, expression, and evolution of antibody genes and other multigene families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Homology and concerted evolution at the alpha 1 and alpha 2 loci of human alpha-globin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

27 October 2018

Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/2913051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The study of a French family with two duplicated C4A haplotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/2913051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14,DR1

1 reference

https://pubmed.ncbi.nlm.nih.gov/2913051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene organization of haplotypes expressing two different C4A allotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/2913051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency by steroid analysis in the amniotic fluid of mid-pregnancy: comparison with HLA typing in 17 pregnancies at risk for CAH

1 reference

https://pubmed.ncbi.nlm.nih.gov/2913051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A possible new HLA-DR allele

1 reference

https://pubmed.ncbi.nlm.nih.gov/2913051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rearrangement of 21-hydroxylase genes in disease-associated MHC supratypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/2913051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene conversion in salt-losing congenital adrenal hyperplasia with absent complement C4B protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/2913051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Associations between restriction fragment length polymorphisms detected with a probe for human 21-hydroxylase (21-OH) and two clinical forms of 21-OH deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/2913051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI113914

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q34566341&oldid=1555562912"