A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form (Q33485519)

27 July 2017

title

A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form (English)

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congenital adrenal hyperplasia

27 July 2017

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5

Cecilia Zuppi

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27 July 2017

Paola Concolino

1

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Emiliano Giardina

Emiliano Giardina

4

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Angelo Minucci

Angelo Minucci

3

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Ettore Capoluongo

Ettore Capoluongo

7

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Enrica Mello

2

Enrica Mello

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27 July 2017

Vincenzo Toscano

6

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27 July 2017

publication date

22 July 2009

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27 July 2017

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27 July 2017

volume

10

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27 July 2017

page(s)

72

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Nonclassic adrenal hyperplasia

27 July 2017

cites work

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Classical forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in adults

21 June 2018

1 reference

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The chimeric CYP21P/CYP21 gene and 21-hydroxylase deficiency

21 June 2018

1 reference

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CYP21 mutations and congenital adrenal hyperplasia

21 June 2018

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Deficiencies of human complement component C4A and C4B and heterozygosity in length variants of RP-C4-CYP21-TNX (RCCX) modules in caucasians. The load of RCCX genetic diversity on major histocompatibility complex-associated disease

21 June 2018

1 reference

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Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

21 June 2018

1 reference

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Modular variations of the human major histocompatibility complex class III genes for serine/threonine kinase RP, complement component C4, steroid 21-hydroxylase CYP21, and tenascin TNX (the RCCX module). A mechanism for gene deletions and disease as

21 June 2018

1 reference

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Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms

21 June 2018

1 reference

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

21 June 2018

1 reference

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

21 June 2018

1 reference

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Frequent deletion and duplication of the steroid 21-hydroxylase genes

21 June 2018

1 reference

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Structure of human steroid 21-hydroxylase genes

21 June 2018

1 reference

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

21 June 2018

1 reference

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Haplotypes of the steroid 21-hydroxylase gene region encoding mild steroid 21-hydroxylase deficiency

21 June 2018

1 reference

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Molecular and endocrine characterization of a mutation involving a recombination between the steroid 21-hydroxylase functional gene and pseudogene.

21 June 2018

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Clinical and Molecular Genetics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

21 June 2018

1 reference

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Identification of the recombination site within the steroid 21-hydroxylase gene (CYP21) of the HLA-B47,DR7 haplotype

21 June 2018

1 reference

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Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

21 June 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-72

Deletion of the C4-CYP21 repeat module leading to the formation of a chimeric CYP21P/CYP21 gene in a 9.3-kb fragment as a cause of steroid 21-hydroxylase deficiency.

21 January 2018

1 reference

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Linkage between I172N mutation, a marker of 21-hydroxylase deficiency, and a single nucleotide polymorphism in Int6 of CYP21B gene: a genetic study of Sardinian family

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-72

Diversity of the CYP21A2 gene: a 6.2-kb TaqI fragment and a 3.2-kb TaqI fragment mistaken as CYP21A1P.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-72

Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional hybrid tenascin-X (TNXB) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-72

Use of PCR-based amplification analysis as a substitute for the southern blot method for CYP21 deletion detection in congenital adrenal hyperplasia

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2718876

How a patient homozygous for a 30-kb deletion of the C4-CYP 21 genomic region can have a nonclassic form of 21-hydroxylase deficiency

31 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19624807

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Structure of chi hotspots of generalized recombination

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19624807

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2350-10-72

1 reference

Dimensions Publication ID

27 July 2017

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27 July 2017

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