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Article

Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.

Blood - 15 Jun 2008

Zhang Bin, Spreafico Marta, Zheng Chunlei, Yang Angela, Platzer Petra, Callaghan Michael U, Avci Zekai, Ozbek Namik, Mahlangu Johnny, Haw Tabitha, Kaufman Randal J, Marchant Kandice, Tuddenham Edward G D, Seligsohn Uri, Peyvandi Flora, Ginsburg David

Abstract excerpt

Combined deficiency of factor V and factor VIII (F5F8D) is caused by mutations in one of 2 genes, either LMAN1 or MCFD2. Here we report the identification of mutations for 11 additional F5F8D families, including 4 novel mutations, 2 in MCFD2 and 2 in LMAN1. We show that a novel MCFD2 missense mutation identified here (D81Y) and 2 previously reported mutations (D89A and D122V) abolish MCFD2 binding to LMAN1....

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Source

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Identifiers

PMID: 18391077
DOI: 10.1182/blood-2007-10-113951
PMCID: PMC2424156

Genes

MCFD2
LMAN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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