The Frequency and the Effects of 21-Hydroxylase Gene Defects in Congenital Adrenal Hyperplasia Patients-Reference-Cited by-同舟云学术

The Frequency and the Effects of 21-Hydroxylase Gene Defects in Congenital Adrenal Hyperplasia Patients

Published:2014-09-17 Issue:6 Volume:78 Page:399-409
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Kirac Deniz¹,Guney Ahmet Ilter²,Akcay Teoman³,Guran Tulay⁴,Ulucan Korkut⁵,Turan Serap⁴,Ergec Deniz²,Koc Gulsah²,Eren Fatih⁶,Kaspar Elif Cigdem⁷,Bereket Abdullah⁴

Affiliation:

1. Yeditepe University; Faculty of Medicine; Department of Medical Biology; Istanbul Turkey

2. Marmara University; Faculty of Medicine; Department of Medical Genetics; Istanbul Turkey

3. Bakırkoy Dr. Sadi Konuk Hospital; Department of Pediatric Endocrinology; Istanbul Turkey

4. Marmara University; Faculty of Medicine; Department of Pediatric Endocrinology; Istanbul Turkey

5. Marmara University; Faculty of Dentistry; Department of Medical Biology and Genetics; Istanbul Turkey

6. Marmara University; Faculty of Medicine; Department of Medical Biology; Istanbul Turkey

7. Yeditepe University; Faculty of Medicine; Department of Biostatistics; Istanbul Turkey

Funder

Marmara University Scientific Research Project Coordination Unit (BAPKO)

Scientific and Technological Research Council of Turkey (TUBITAK)

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ahg.12083/fullpdf

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3. Gene duplications in 21-hydroxylase deficiency: The importance of accurate molecular diagnosis in carrier detection and prenatal diagnosis;Ezquieta;Prenat Diagn,2006

4. Screening for mutations of 21-hydroxylase gene in Hungarian patients with congenital adrenal hyperplasia;Ferenczi;J Clin Endocrinol Metab,1999

5. CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: Identification of two novel mutations and characterization of four different partial gene conversions;Friaes;Mol Genet Metab,2006

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