CYP21A2 Gene Mutations in Congenital Adrenal Hyperplasia: Genotype−phenotype correlation in Turkish children

Background: Congenital adrenal hyperplasia (CAH) due 21−hydroxylase deficiency (21−OHD) is a common autosomal recessive disorder. It is caused by defects in the CYP21A2 gene. Objective: Our aim was to determine the frequency of common gene mutations and to evaluate genotype−phenotype correlations in...

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Detaylı Bibliyografya
Asıl Yazarlar: Baş, Firdevs, Kayserili, Hülya, Darendeliler, Feyza, Uyguner, Oya, Günöz, Hülya, Yüksel Apak, Memnune, Atalar, Fatmahan, Bundak, Rüveyde, Wilson, Robert C., New, Maria I., Wollnik, Bernd, Saka, Nurçin
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Galenos Publishing 2009
Konular:
Original Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3005650/
https://ncbi.nlm.nih.gov/pubmed/21274396
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4008/jcrpe.v1i3.49
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