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

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

Abstract 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 techni...

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Bibliographic Details
Main Authors: Francesco Callea, Isabella Giovannoni, Paola Francalanci, Renata Boldrini, Gavino Faa, Daniela Medicina, Valerio Nobili, Valeer J. Desmet, Kamal Ishak, Kuniaki Seyama, Emanuele Bellacchio
Format: Article
Language:English
Published: BMC 2018-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Alpha-1-antitrypsin deficiency
Mmalton
calcification
Online Access:http://link.springer.com/article/10.1186/s13023-018-0821-7

Internet

http://link.springer.com/article/10.1186/s13023-018-0821-7

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