ロード中...
Complement Component 4 Copy Number Variation and CYP21A2 Genotype Associations in Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
BACKGROUND: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is an autosomal recessive disorder of cortisol biosynthesis caused by CYP21A2 mutations. An increase in gene copy number variation (CNV) exists at the CYP21A2 locus. CNV of C4, a neighboring gene that encodes...
保存先:
| 主要な著者: | , , , , , |
|---|---|
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2012
|
| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3493742/ https://ncbi.nlm.nih.gov/pubmed/22886582 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-012-1217-8 |
| タグ: |
タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!
|