Literature DB >> 12746407

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.

P F J Koppens, H J M Smeets, I J de Wijs, H J Degenhart.   

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Year:  2003        PMID: 12746407      PMCID: PMC1735462          DOI: 10.1136/jmg.40.5.e53

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


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  4 in total

1.  Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency.

Authors:  Fernanda B Coeli; Fernanda C Soardi; Renan D Bernardi; Marcela de Araújo; Luciana C Paulino; Ivy F Lau; Reginaldo J Petroli; Sofia H V de Lemos-Marini; Maria T M Baptista; Gil Guerra-Júnior; Maricilda P de-Mello
Journal:  BMC Med Genet       Date:  2010-06-29       Impact factor: 2.103

2.  A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form.

Authors:  Paola Concolino; Enrica Mello; Angelo Minucci; Emiliano Giardina; Cecilia Zuppi; Vincenzo Toscano; Ettore Capoluongo
Journal:  BMC Med Genet       Date:  2009-07-22       Impact factor: 2.103

3.  Intraspecific evolution of human RCCX copy number variation traced by haplotypes of the CYP21A2 gene.

Authors:  Zsófia Bánlaki; Julianna Anna Szabó; Ágnes Szilágyi; Attila Patócs; Zoltán Prohászka; George Füst; Márton Doleschall
Journal:  Genome Biol Evol       Date:  2013       Impact factor: 3.416

4.  Common genetic variants of the human steroid 21-hydroxylase gene (CYP21A2) are related to differences in circulating hormone levels.

Authors:  Márton Doleschall; Julianna Anna Szabó; Júlia Pázmándi; Ágnes Szilágyi; Klára Koncz; Henriette Farkas; Miklós Tóth; Péter Igaz; Edit Gláz; Zoltán Prohászka; Márta Korbonits; Károly Rácz; George Füst; Attila Patócs
Journal:  PLoS One       Date:  2014-09-11       Impact factor: 3.240

  4 in total

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