Literature DB >> 23927611

Functional consequences of a novel point mutation in the CYP21A2 gene identified in a Chinese Han patient with nonclassic 21-hydroxylase deficiency.

Xiaojing Chu1, Hu Ding, Guanglin Cui, Yujun Xu, Dao Wen Wang, Yebing He.   

Abstract

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Year:  2013        PMID： 23927611     DOI： 10.1111/cen.12309

Source DB:  PubMed          Journal:  Clin Endocrinol (Oxf)        ISSN： 0300-0664            Impact factor:   3.478


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  3 in total

1.  Misregulation effect of a novel allelic variant in the Z promoter region found in cis with the CYP21A2 p.P482S mutation: implications for 21-hydroxylase deficiency.

Authors:  Cecilia S Fernández; Carlos D Bruque; Melisa Taboas; Noemí D Buzzalino; Lucia D Espeche; Titania Pasqualini; Eduardo H Charreau; Liliana G Alba; Pablo D Ghiringhelli; Liliana Dain
Journal:  Endocrine       Date:  2015-07-17       Impact factor: 3.633

2.  Novel method to characterize CYP21A2 in Florida patients with congenital adrenal hyperplasia and commercially available cell lines.

Authors:  Christopher N Greene; Suzanne K Cordovado; Daniel P Turner; Lisa M Keong; Dorothy Shulman; Patricia W Mueller
Journal:  Mol Genet Metab Rep       Date:  2014-08-08

3.  Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene.

Authors:  Melisa Taboas; Luciana Gómez Acuña; María Florencia Scaia; Carlos D Bruque; Noemí Buzzalino; Mirta Stivel; Nora R Ceballos; Liliana Dain
Journal:  PLoS One       Date:  2014-03-25       Impact factor: 3.240
  3 in total

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