Frequent deletion and duplication of the steroid 21-hydroxylase genes (Q35198772)

7 August 2017

Frequent deletion and duplication of the steroid 21-hydroxylase genes (English)

1 reference

7 August 2017

J W Werkmeister

1

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7 August 2017

M I New

series ordinal

2

1 reference

7 August 2017

B Dupont

series ordinal

3

1 reference

7 August 2017

P C White

series ordinal

4

1 reference

7 August 2017

language of work or name

English

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publication date

1 October 1986

1 reference

American Journal of Human Genetics

7 August 2017

1 reference

7 August 2017

39

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7 August 2017

4

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7 August 2017

461-469

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High frequency of nonclassical steroid 21-hydroxylase deficiency

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683994

A highly polymorphic locus in human DNA

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683994

Human C4 haplotypes with duplicated C4A or C4B

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683994

Detection of sickle cell beta S-globin allele by hybridization with synthetic oligonucleotides

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683994

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683994

Structure and organization of theC4genes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683994

Structure of human steroid 21-hydroxylase genes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683994

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683994

Restriction maps and restriction fragment length polymorphisms of the human 21-hydroxylase genes.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683994

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683994

Detection of specific sequences among DNA fragments separated by gel electrophoresis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683994

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683994

Inborn errors of steroid biosynthesis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683994

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683994

The biochemical basis for genotyping 21-hydroxylase deficiency

28 July 2018

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

Extended MHC haplotypes in 21-hydroxylase-deficiency congenital adrenal hyperplasia: shared genotypes in unrelated patients

1 reference

12 December 2020

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

1 reference

12 December 2020

Is salt-wasting in congenital adrenal hyperplasia due to the same gene as the fasciculata defect?

1 reference

12 December 2020

Identifiers

PMCID

1683994

1 reference

7 August 2017

1 reference