Mutation in the von Willebrand factor-A domain is not a prerequisite for the MATN3 mutation in multiple epiphyseal dysplasia.
Maeda
Koichi
K
Nakashima
Eiji
E
Horikoshi
Taizo
T
Mabuchi
Akihiko
A
Ikegawa
Shiro
S
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*
D016326:Extracellular Matrix Proteins; D064235:Matrilin Proteins; D014841:von Willebrand Factor