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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Respir Med Case Rep
Hlavní autoři: Jouhadi, Zineb, Odou, Marie Francoise, Zerimech, Farid, Bousfiha, Ahmed Aziz, Mikou, Nabiha, Porchet, Nicole, Crepin, Michel, Najib, Jilali, Balduyck, Malika
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2018
Témata:
Case Report
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!

Podobné jednotky