Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency
Abstract Background This study aimed to describe the clinical and biochemical features of Chinese patients with ornithine transcarbamylase deficiency (OTCD), and to investigate the mutation spectrum of OTC gene and their potential correlation with phenotype. Methods Sixty-nine patients with OTCD wer...
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| 主要な著者: | , , , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BMC
2020-12-01
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| シリーズ: | Orphanet Journal of Rare Diseases |
| 主題: | |
| オンライン･アクセス: | https://doi.org/10.1186/s13023-020-01606-2 |
| タグ: |
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