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...

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Detalles Bibliográficos
Autores principales: Jouhadi, Zineb, Odou, Marie Francoise, Zerimech, Farid, Bousfiha, Ahmed Aziz, Mikou, Nabiha, Porchet, Nicole, Crepin, Michel, Najib, Jilali, Balduyck, Malika
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6010612/
https://www.ncbi.nlm.nih.gov/pubmed/29977761
http://dx.doi.org/10.1016/j.rmcr.2018.04.005

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6010612/
https://www.ncbi.nlm.nih.gov/pubmed/29977761
http://dx.doi.org/10.1016/j.rmcr.2018.04.005

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