ロード中...
A Novel De Novo Heterozygous ALPL Nonsense Mutation Associated with Adult Hypophosphatasia
SUMMARY: Hypophosphatasia (HPP) is a rare inherited metabolic disorder caused by genetic alterations of the alkaline phosphatase (ALPL) gene, encoding the tissue-nonspecific isozyme of alkaline phosphatase (TNSALP). The purpose of this study was to perform a clinical and molecular investigation in a...
保存先:
| 出版年: | Osteoporos Int |
|---|---|
| 主要な著者: | , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2020
|
| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8214176/ https://ncbi.nlm.nih.gov/pubmed/32572521 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00198-020-05490-1 |
| 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!
|