In vitrofunctional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia-Reference-Cited by-同舟云学术

In vitrofunctional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia

Published:2014-07-07 Issue:1 Volume:82 Page:37-44
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:Clin Endocrinol

Author:

Barbaro Michela¹²,Soardi Fernanda C.³,Östberg Linus J.⁴,Persson Bengt⁵,de Mello Maricilda Palandi³,Wedell Anna¹²,Lajic Svetlana⁶

Affiliation:

1. Department of Molecular Medicine and Surgery; Karolinska Institutet; Stockholm Sweden

2. Center for Inherited Metabolic Diseases; Karolinska University Hospital; Stockholm Sweden

3. Laboratorio de Genetica Molecular Humana; Centro de Biologia Molecular e Engenharia Genetica; Universidade Estadual de Campinas; Campinas SP Brazil

4. Science for Life Laboratory and SeRC (Swedish eScience Research Centre); Department of Medical Biochemistry and Biophysics; Karolinska Institutet; Stockholm Sweden

5. Science for Life Laboratory; Department of Cell and Molecular Biology; Uppsala University; Uppsala Sweden

6. Department of Women′s and Children′s Health; Karolinska Institutet; Stockholm Sweden

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Reference40 articles.

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2. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline;Speiser;The Journal of Clinical Endocrinology and Metabolism,2010

3. High frequency of nonclassical steroid 21-hydroxylase deficiency;Speiser;American Journal of Human Genetics,1985

4. Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency;Wilson;Molecular Genetics and Metabolism,2007

5. Nonclassic congenital adrenal hyperplasia;Witchel;International Journal of Pediatric Endocrinology,2010

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