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Article

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

Orphanet journal of rare diseases - 16 May 2018

Callea Francesco, Giovannoni Isabella, Francalanci Paola, Boldrini Renata, Faa Gavino, Medicina Daniela, Nobili Valerio, Desmet Valeer J, Ishak Kamal, Seyama Kuniaki, Bellacchio Emanuele

Abstract excerpt

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. Therefore, molecular analysis is mandatory for their characterization. In particular, that holds true for the Mmalton...

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Identifiers

PMID: 29769092
DOI: 10.1186/s13023-018-0821-7
PMCID: PMC5956786

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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