ロード中...
ATP6AP1‐CDG: Follow‐up and female phenotype
In 2016, 11 male patients were reported with immunodeficiency and hepatic, gastric and (in some) neurological disease due to X‐linked ATP6AP1 deficiency (ATP6AP1‐CDG). In 2018, three other patients were reported with additional features: connective tissue abnormalities, sensorineural hearing loss, h...
保存先:
| 出版年: | JIMD Rep |
|---|---|
| 主要な著者: | , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
John Wiley & Sons, Inc.
2020
|
| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7203642/ https://ncbi.nlm.nih.gov/pubmed/32395412 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12104 |
| 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!
|