title: Mutation in the von Willebrand factor-A domain is not a prerequisite for the MATN3 mutation in multiple epiphyseal dysplasia.
authors.forename: Koichi
authors.initials: K
authors.lastname: Maeda
authors.forename: Eiji
authors.initials: E
authors.lastname: Nakashima
authors.forename: Taizo
authors.initials: T
authors.lastname: Horikoshi
authors.forename: Akihiko
authors.initials: A
authors.lastname: Mabuchi
authors.forename: Shiro
authors.initials: S
authors.lastname: Ikegawa
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D064235:Matrilin Proteins; D009154:Mutation; D020125:Mutation, Missense; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011859:Radiography; D014841:von Willebrand Factor / Q000235:genetics*
chemical_list: D016326:Extracellular Matrix Proteins; D064235:Matrilin Proteins; D014841:von Willebrand Factor