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Article

A new L1446P mutation is responsible for impaired von Willebrand factor synthesis, structure, and function.

The Journal of laboratory and clinical medicine - 1 Nov 2004

Casonato Alessandra, Cattini Maria Grazia, Soldera Carmen, Marcato Stefania, Sartorello Francesca, Pontara Elena, Pagnan Antonio

Abstract excerpt

We report on a new mutation (4337T-->C) in exon 28 of the von Willebrand factor (VWF) gene, resulting in a substitution of L with P at residue 1446 (L1446P) of pre-pro-VWF. The defect is transmitted as a dominant trait and induces a reduced VWF synthesis, an abnormal VWF multimer pattern and a de...

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Source

Identifiers

PMID: 15570243
DOI: 10.1016/j.lab.2004.08.002

Genes

VWF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15570243-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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