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Can we change a genetically determined future?
We describe the clinical evolution of the first patient diagnosed with a severe α-1 antitrypsin (AAT) deficiency caused by a rare null allele (Q0Ourém), over the past 18 years. We highlight the clinical course of the disease as well as the evolution of the pulmonary function tests from initial diagn...
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| 出版年: | BMJ Case Rep |
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| 主要な著者: | , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BMJ Publishing Group
2015
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4434296/ https://ncbi.nlm.nih.gov/pubmed/25979955 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2013-200797 |
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