Llwytho...
A novel alpha1-antitrypsin null variant (PiQ0(Milano))
Alpha1-antitrypsin deficiency is an autosomal recessive disease characterized by reduced serum levels of alpha1-antitrypsin (AAT) due to mutations in the SERPINA1 gene causing early onset pulmonary emphysema and, occasionally, chronic liver disease. We report an incidental finding of a novel null AA...
Wedi'i Gadw mewn:
| Prif Awduron: | , , , , , |
|---|---|
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
Baishideng Publishing Group Co., Limited
2013
|
| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3767846/ https://ncbi.nlm.nih.gov/pubmed/24023986 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4254/wjh.v5.i8.458 |
| Tagiau: |
Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!
|