ロード中...
A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature
BACKGROUND: The SLC29A3 gene, encoding a nucleoside transporter protein, is found in intracellular membranes. Based on the literatures, mutations in this gene cause a wide range of clinical manifestations including H syndrome, pigmented hypertrichosis with insulin dependent diabetes, Faisalabad hist...
保存先:
| 出版年: | BMC Med Genet |
|---|---|
| 主要な著者: | , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2019
|
| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6716938/ https://ncbi.nlm.nih.gov/pubmed/31464584 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0879-7 |
| 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!
|