A previously undescribed mutation detected by sequence analysis of CYP21A2 gene in an infant with salt wasting congenital adrenal hyperplasia

被引：0

作者：

Girgis, Rose ^{[1
]}

Ajamian, Faria ^{[1
]}

Metcalfe, Peter ^{[2
]}

机构：

[1] Univ Alberta, Dept Pediat, Edmonton, AB T6G 2B7, Canada

[2] Univ Alberta, Edmonton, AB T6G 2B7, Canada

来源：

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM | 2013年 / 26卷 / 7-8期

关键词：

CAH; CYP21A2; gene; novel mutation;

D O I：

10.1515/JPEM.2011.038

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The Human Cytochrome P450 (CYP) Allele Nomenclature Committee (http:www.imm.Ki.se/CYPalleles/cyp21.htm) has created a CYP21A2 database which include a list of all reported CYP21A2 mutations and the last update of this database was in 2006. The most up to date list of the CYP21A2 mutations reported over the last four years was published in a recent article by Concolino et al. We report a previously undescribed mutation detected by sequence analysis of CYP21A2 gene in an infant resulting in salt wasting congenital adrenal hyperplasia.

引用

页码：765 / 766

页数：2

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