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Article

Altered phenotype in LMAN1-deficient mice with low levels of residual LMAN1 expression.

Blood advances - 24 Nov 2020

Everett Lesley A, Khoriaty Rami N, Zhang Bin, Ginsburg David

Abstract excerpt

Combined deficiency of coagulation factors V and VIII (F5F8D) is an autosomal recessive bleeding disorder caused by loss-of-function mutations in either LMAN1 or MCFD2. The latter genes encode 2 components of a mammalian cargo receptor that facilitates secretion of coagulation factor V (FV) and factor VIII (FVIII) from the endoplasmic reticulum (ER) to the Golgi via coat protein complex II vesicles. F5F8D...

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Identifiers

PMID: 33196840
DOI: 10.1182/bloodadvances.2020002523
PMCID: PMC7686883

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Altered phenotype in LMAN1-deficient mice with low levels of residual LMAN1 expression.PMID 33196840Read ↗

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