title: A synonymous mutation in LMAN1 creates an ectopic splice donor site and causes combined deficiency of FV and FVIII.
authors.affiliation: Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, OH Pediatric Hematology/Oncology, University of Mississippi Medical Center, Jackson, MS, USA.
authors.forename: M
authors.initials: M
authors.lastname: Zhu
authors.forename: V
authors.initials: V
authors.lastname: DAS
authors.forename: C
authors.initials: C
authors.lastname: Zheng
authors.forename: S
authors.initials: S
authors.lastname: Majumdar
authors.forename: B
authors.initials: B
authors.lastname: Zhang
mesh_terms: D001178:Arthroplasty / Q000009:adverse effects; D001665:Binding Sites; D001777:Blood Coagulation; D001803:Blood Transfusion; D002648:Child; D004252:DNA Mutational Analysis; D005166:Factor V Deficiency / Q000235:genetics*; D005260:Female; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D037241:Mannose-Binding Lectins / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009336:Necrosis / Q000601:surgery; D020641:Polymorphism, Single Nucleotide; D022821:RNA Splice Sites
chemical_list: C084004:LMAN1 protein, human; D037241:Mannose-Binding Lectins; D008565:Membrane Proteins; D022821:RNA Splice Sites