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Article

Can we change a genetically determined future?

BMJ case reports - 15 May 2015

Rodrigues Fernandes Lígia, Vaz Rodrigues Luis, Costa Filipa, Martins Yvette

Abstract excerpt

We describe the clinical evolution of the first patient diagnosed with a severe α-1 antitrypsin (AAT) deficiency caused by a rare null allele (Q0Ourém), over the past 18 years. We highlight the clinical course of the disease as well as the evolution of the pulmonary function tests from initial di...

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Identifiers

PMID: 25979955
DOI: 10.1136/bcr-2013-200797
PMCID: PMC4434296

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25979955-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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