Novel variants of CYP21A2 in Vietnamese patients with congenital adrenal hyperplasia-Reference-Cited by-同舟云学术

Novel variants of CYP21A2 in Vietnamese patients with congenital adrenal hyperplasia

Published:2019-02-27 Issue:5 Volume:7 Page:e623
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Chi Dung V.¹²,Tran Thinh H.¹³,Nguyen Duc H.¹³,Luong Long H.¹,Le Phuong T.¹,Ta Minh H.¹,Ngo Huong T. T.¹²,Nguyen Mai P.²,Le‐Anh Tuan P.¹,Nguyen Dat P.¹²,Bui The‐Hung¹⁴,Ta Van T.¹³,Tran Van K.¹^ORCID

Affiliation:

1. Center for Gene and Protein Research Hanoi Medical University Hanoi Vietnam

2. National Pediatric Hospital Hanoi Vietnam

3. Hanoi Medical University Hospital Hanoi Vietnam

4. Clinical Genetics Unit Center for Molecular Medicine Karolinska Institutet Karolinska University Hospital Stockholm Sweden

Funder

Ministry of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.623

Reference28 articles.

1. A method and server for predicting damaging missense mutations

2. Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency

3. Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia

4. A novel 9-bp insertion detected in steroid 21-hydroxylase gene (CYP21A2): prediction of its structural and functional implications by computational methods

5. Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia

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3. Genotypic spectrum of 21-hydroxylase deficiency in an endogamous population;Journal of Endocrinological Investigation;2021-08-02

4. Targeted gene panel sequencing for molecular diagnosis of congenital adrenal hyperplasia;The Journal of Steroid Biochemistry and Molecular Biology;2021-07

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