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Article

A synonymous mutation in LMAN1 creates an ectopic splice donor site and causes combined deficiency of FV and FVIII.

Journal of thrombosis and haemostasis : JTH - 1 Nov 2012

Zhu M, DAS V, Zheng C, Majumdar S, Zhang B

Abstract excerpt

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Topics

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Share to Blood Transfusion
Share to Binding Sites
Share to Blood Coagulation
Share to Factor V Deficiency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hemophilia A

Share to Mannose-Binding Lectins

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Source

Open in PubMed Open full text

Identifiers

PMID: 23006835
DOI: 10.1111/jth.12002
PMCID: PMC3563766

Genes

LMAN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A synonymous mutation in LMAN1 creates an ectopic splice donor site and causes combined deficiency of FV and FVIII.PMID 23006835Read ↗

Combined Factor V and VIII Deficiency with LMAN1 Mutation: A Report of 3 Saudi Siblings.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Novel L1CAM splice site mutation in a young male with L1 syndrome.Semantic proximity Read ↗

Successful percutaneous coronary intervention in a patient with combined deficiency of FV and FVIII due to novel compound heterozygous mutations in LMAN1.Semantic proximity Read ↗

A synonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B.Semantic proximity Read ↗

Recent developments in the understanding of the combined deficiency of FV and FVIII.Semantic proximity Read ↗

Genotype and phenotype report on patients with combined deficiency of factor V and factor VIII in Iran.Semantic proximity Read ↗

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

Murine coagulation factor VIII is synthesized in endothelial cellsSemantic proximity Read ↗

Separate roles of LMAN1 and MCFD2 in ER-to-Golgi trafficking of factor V and factor VIIISemantic proximity Read ↗

Mice deficient in LMAN1 exhibit FV and FVIII deficiencies and liver accumulation of α1-antitrypsin.Semantic proximity Read ↗

A homozygous duplication of the <I>FGG</i> exon 8-intron 8 junction causes congenital afibrinogenemia. Lessons learned from the study of a large consanguineous Turkish family.Semantic proximity Read ↗

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