Načítá se...
Alpha1 antitrypsin deficiency due to an homozygous PI* Null Q0Cairo mutation: Early onset of pulmonary manifestations and variability of clinical expression
Alpha-1 antitrypsin deficiency is an autosomal, codominant disorder caused by mutations of the SERPINA1 gene. This genetic disorder is mainly associated with development of pulmonary emphysema and/or chronic liver disease and cirrhosis. Here we report a very rare alpha-1 antitrypsin Null Q0cairo hom...
Uloženo v:
| Vydáno v: | Respir Med Case Rep |
|---|---|
| Hlavní autoři: | , , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Elsevier
2018
|
| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6010612/ https://ncbi.nlm.nih.gov/pubmed/29977761 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.rmcr.2018.04.005 |
| Tagy: |
Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!
|