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Article

MVarallo: a new M(Like) alpha 1-antitrypsin-deficient allele.

Diagnostic molecular pathology : the American journal of surgical pathology, part B - 1 Dec 2003

Coni Pierpaolo, Pili Elisabetta, Convertino Giuseppe, Pichiri Giuseppina, Balestrino Antonella, Delmastro Monica, Donner Claudio F, Faa Gavino, Balbi Bruno

Abstract excerpt

A 73-year-old never-smoker woman with chronic bronchitis, increasing dyspnoea, and airflow limitation with a FEV1 of 49% of predicted value had low serum level of alpha-1-antitrypsin (69 mg/dL, normal range 150-350). Isoelectric focusing showed an Mlike pattern. Direct sequencing showed, in the second exon, a particular DNA alteration localized between codon 41 and codon 51: a region of 30 base pairs (bp) was...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 14639110
DOI: 10.1097/00019606-200312000-00008

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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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