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Whole PROC Gene Sequencing to Explain Genetically Unresolved Protein C Deficiencies.

Thrombosis and haemostasis - 1 Jun 2026

Mauge Laetitia, Rial Carla, Mazancourt Philippe De, Helley Dominique, Présot Isabelle, Billon Clarisse, Labrouche-Colomer Sylvie, Venisse Annabelle, Dargaud Yesim, Auribault Karine, Bertil Sébastien, Vinciguerra Christine, Gandrille Sophie, Jourdy Yohann

Abstract excerpt

Background: With exon-focused approaches, a proportion of protein C (PC) deficiencies remains genetically unresolved. In these cases, deep intronic variation or structural variation could be causal. Objectives: To identify the causal variation in unrelated patients presenting a PC deficiency in whom no genetic variation was found using conventional exploration. Patients/Methods: Whole PROC gene was analyzed using...

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Identifiers

PMID: 40789311
DOI: 10.1055/a-2668-5003

Genes

PROC
PC

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