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Article

Mutation in the von Willebrand factor-A domain is not a prerequisite for the MATN3 mutation in multiple epiphyseal dysplasia.

American journal of medical genetics. Part A - 30 Jul 2005

Maeda Koichi, Nakashima Eiji, Horikoshi Taizo, Mabuchi Akihiko, Ikegawa Shiro

Abstract excerpt

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Topics

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Share to DNA Mutational Analysis
Share to Extracellular Matrix Proteins
Share to Matrilin Proteins
Share to Mutation, Missense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Osteochondrodysplasias

Share to Polymorphism, Restriction Fragment Length

Share to Radiography

Share to von Willebrand Factor

Source

Identifiers

PMID: 15948199
DOI: 10.1002/ajmg.a.30832

Genes

MATN3

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

Mutation in the von Willebrand factor-A domain is not a prerequisite for the MATN3 mutation in multiple epiphyseal dysplasia.PMID 15948199Read ↗

Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia.Semantic proximity Read ↗

Two families with spondylo-epi-metaphyseal dysplasia due to compound heterozygocity in the vWFA domain of MATN3.Semantic proximity Read ↗

Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study.Semantic proximity Read ↗

Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.Semantic proximity Read ↗

Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients.Semantic proximity Read ↗

Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasiaSemantic proximity Read ↗

Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations.Semantic proximity Read ↗

Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia.Semantic proximity Read ↗

Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia–Multiple Epiphyseal Dysplasia Disease SpectrumSemantic proximity Read ↗

Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population.Semantic proximity Read ↗

Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up.Semantic proximity Read ↗

Novel mutations in exon 2 of MATN3 affect residues within the alpha-helices of the A-domain and can result in the intracellular retention of mutant matrilin-3.Semantic proximity Read ↗

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