A challenging diagnosis of alpha-1-antitrypsin deficiency: identification of a patient with a novel F/Null phenotype
<p>Abstract</p> <p>Alpha-1-antitrypsin (A1AT) deficiency is a genetic disease characterized by low levels and/or function of A1AT protein. A1AT deficiency can result in the development of COPD, liver disease, and certain skin conditions. The disease can be diagnosed by demonstrating a low level of A...
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| Principais autores: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMC
2011-11-01
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| coleção: | Allergy, Asthma & Clinical Immunology |
| Assuntos: | |
| Acesso em linha: | http://www.aacijournal.com/content/7/1/18 |
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