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Functional characterization of a SNP (F51S) found in human alpha 1‐antitrypsin
BACKGROUND: Alpha 1‐antitrypsin (A1AT) deficiency is related to lung and liver diseases, including pulmonary emphysema and liver cirrhosis in humans. Genetic variations including single nucleotide polymorphisms (SNPs) of SERPINA1 are responsible for A1AT deficiency, but the characteristics of the SN...
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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6687665/ https://ncbi.nlm.nih.gov/pubmed/31251477 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.819 |
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