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Article

Intracellular evaluation of ER targeting elucidates a mild form of inherited coagulation deficiency.

Molecular medicine (Cambridge, Mass.) - 1 Jan 2000

Rizzotto Lara, Pinotti Mirko, Pinton Paolo, Rizzuto Rosario, Bernardi Francesco

Abstract excerpt

Missense mutations reduce protein levels through several molecular mechanisms. Among them, altered targeting to endoplasmic reticulum (ER) and its relationship with clinical phenotypes in patients have been poorly investigated. To address this point, we studied the prepeptide mutations (L-48P, L-...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 17088945
DOI: 10.2119/2005-00040.Rizzotto
PMCID: PMC1626593

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17088945-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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