Associated Papers
From Protein Misfolding to Extracellular Matrix Disorganisation: Understanding Disease Pathology in Rare Skeletal Dysplasias.
Dennis EP et al.
International Journal of Molecular Sciences, 2025
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › TCGA
Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia.
Mabuchi A et al.
Human Mutation, 2004
Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD.
Borochowitz ZU et al.
Journal of Medical Genetics, 2004
Matrilin-3 is dispensable for mouse skeletal growth and development.
Ko Y et al.
Molecular and Cellular Biology, 2004
Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up.
Mostert AK et al.
American Journal of Medical Genetics. Part A, 2003
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