Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency

BACKGROUND: Alpha-1-antitrypsin (AAT) deficiency (AATD) of Z, Mmalton, Siiyama type is associated with liver storage of the mutant proteins and liver disease. The Z variant can be diagnosed on isoelectric focusing (IEF) while Mmalton and Siiyama may be missed or misdiagnosed with this technique. The...

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Publicat a:Orphanet J Rare Dis
Autors principals: Callea, Francesco, Giovannoni, Isabella, Francalanci, Paola, Boldrini, Renata, Faa, Gavino, Medicina, Daniela, Nobili, Valerio, Desmet, Valeer J., Ishak, Kamal, Seyama, Kuniaki, Bellacchio, Emanuele
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2018
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5956786/
https://ncbi.nlm.nih.gov/pubmed/29769092
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0821-7
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