Multiplex Ligation-Dependent Probe Amplification Analysis Is Useful for Diagnosing Congenital Adrenal Hyperplasia but Requires a Deep Knowledge of CYP21A2 Genetics

被引：17

作者：

Concolino, Paola ^{[1
]}

Mello, Enrica ^{[1
]}

Minucci, Angelo ^{[1
]}

Zuppi, Cecilia ^{[1
]}

Capoluongo, Ettore ^{[1
]}

机构：

[1] Catholic Univ, Mol Biol Lab, Inst Biochem & Clin Biochem, I-00168 Rome, Italy

来源：

CLINICAL CHEMISTRY | 2011年 / 57卷 / 07期

关键词：

D O I：

10.1373/clinchem.2011.162230

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

引用

页码：1079 / 1080

页数：2

共 4 条

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BMC MEDICAL GENETICS, 2010, 11

[3] Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in Congenital Adrenal Hyperplasia: First technical report [J].

Concolino, Paola ;

Mello, Enrica ;

Toscano, Vincenzo ;

Ameglio, Franco ;

Zuppi, Cecilia ;

Capoluongo, Ettore .

CLINICA CHIMICA ACTA, 2009, 402 (1-2) :164-170

[4] Genetics of congenital adrenal hyperplasia [J].

Krone, Nils ;

Arlt, Wiebke .

BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM, 2009, 23 (02) :181-192

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