Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in Congenital Adrenal Hyperplasia: First technical report-Reference-Cited by-同舟云学术

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

Published:2009-04 Issue:1-2 Volume:402 Page:164-170
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Concolino Paola,Mello Enrica,Toscano Vincenzo,Ameglio Franco,Zuppi Cecilia,Capoluongo Ettore

Publisher

Elsevier BV

Subject

Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine

Reference36 articles.

1. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency;White;Endocr Rev,2000

2. Congenital adrenal hyperplasia;Speiser;N Engl J Med,2003

3. Extensive clinical experience: nonclassical 21-hydroxylase deficiency;New;J Clin Endocrinol Metab,2006

4. Salt wasting in simple virilizing congenital adrenal hyperplasia;Frisch;J Pediatr Endocrinol Metab,2001

5. Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man;White;Proc Natl Acad Sci U S A,1985

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