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Article

Penetrance and predictive value of genetic screening in acute porphyria.

Molecular genetics and metabolism - 1 May 2020

Baumann K, Kauppinen R

Abstract excerpt

OBJECTIVE: Penetrance, predictive value and female patients' perspectives on genetic testing were evaluated among Finnish patients with acute porphyria. We conducted a retrospective study to evaluate prognosis among at-risk female family members depending on the primary method of diagnosis. METHODS: The penetrance was calculated among 23 genetically heterogeneous families selected from the Finnish porphyria...

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Identifiers

PMID: 32067921
DOI: 10.1016/j.ymgme.2020.02.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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