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Two novel ANK1 loss‐of‐function mutations in Chinese families with hereditary spherocytosis
Hereditary spherocytosis (HS) is the most common inherited haemolytic anaemia disorder. ANK1 mutations account for most HS cases, but pathogenicity analysis and functional research have not been widely performed for these mutations. In this study, in order to confirm diagnosis, gene mutation was scr...
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| 出版年: | J Cell Mol Med |
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| 主要な著者: | , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
John Wiley and Sons Inc.
2019
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6533472/ https://ncbi.nlm.nih.gov/pubmed/31016877 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/jcmm.14343 |
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