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A new case of combined factor V and factor VIII deficiency further suggests that the LMAN1 M1T mutation is a frequent cause in Italian patients.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Mar 2007

D'Ambrosio Rosa, Santacroce Rosa, Di Perna Pasquale, Sarno Michela, Romondia Arturo, Margaglione Maurizio

Abstract excerpt

Combined factor V and factor VIII deficiency (F5F8D) is an extremely rare worldwide congenital hemorrhagic disorder that is more prevalent in the Mediterranean area. We report the clinical presentations and the identification of a LMAN1 mutation in a 3-year-old Italian boy who was diagnosed with F5F8D. The mutation identified (M1T) has already been found in several Italian patients. Since the LMAN1 M1T mutation...

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Source

Identifiers

PMID: 17287640
DOI: 10.1097/MBC.0b013e328012b615

Genes

LMAN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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