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Article

Novel and recurrent exon 13 mutations of COMP in pseudoachondroplasia.

American journal of medical genetics. Part A - 1 Jan 2005

Nakashima Eiji, Mabuchi Akihiko, Kubota Mitsuru, Ishikiriyama Satoshi, Ohashi Hirofumi, Nishimura Gen, Ikegawa Shiro

Abstract excerpt

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Topics

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Share to Achondroplasia
Share to Cartilage Oligomeric Matrix Protein
Share to Extracellular Matrix Proteins
Share to Glycoproteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15523619
DOI: 10.1002/ajmg.a.30348

Genes

COMP

Provenance

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Related research

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Novel and recurrent exon 13 mutations of COMP in pseudoachondroplasia.PMID 15523619Read ↗

Novel human pathological mutations. Gene symbol: COMP. Disease: pseudoachondroplasia.Semantic proximity Read ↗

Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.Semantic proximity Read ↗

A novel COMP mutation in a Chinese patient with pseudoachondroplasia.Semantic proximity Read ↗

A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia.Semantic proximity Read ↗

Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia -- multiple epiphyseal dysplasia disease group.Semantic proximity Read ↗

Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia.Semantic proximity Read ↗

Molecular diagnosis is important to confirm suspected pseudoachondroplasia.Semantic proximity Read ↗

Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.Semantic proximity Read ↗

[Clinical features and COMP gene mutation in a family with a pseudoachondroplasia child].Semantic proximity Read ↗

Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients.Semantic proximity Read ↗

A novel COMP mutation in a pseudoachondroplasia family of Chinese origin.Semantic proximity Read ↗

[Progress of molecular genetic research on pseudoachon-droplasia and multiple epiphyseal dysplasia].Semantic proximity Read ↗

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