Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.

doi:10.1002/(sici)1096-8628(19990827)85:5<486::aid-ajmg10>3.0.co;2-o

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Article

Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.

American journal of medical genetics - 27 Aug 1999

Deere M, Sanford T, Francomano C A, Daniels K, Hecht J T

Abstract excerpt

Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (EDM1) are allelic disorders caused by mutations in the gene encoding cartilage oligomeric matrix protein (COMP). PSACH is a dominant condition characterized by disproportionate short stature, joint laxity, and early-onset osteoarthritis. EDM1 is a less severe skeletal dysplasia associated with average to mild short stature, joint pain, and...

Topics

Achondroplasia
Cartilage
Cartilage Oligomeric Matrix Protein
Epiphyses
Exons
Extracellular Matrix Proteins
Female
Germ-Line Mutation
Glycoproteins
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Matrilin Proteins

Mosaicism

Mutation

Osteochondrodysplasias

Pedigree

Polymerase Chain Reaction

Polymorphism, Single-Stranded Conformational

Source

Open in PubMed

Identifiers

PMID: 10405447
DOI: 10.1002/(sici)1096-8628(19990827)85:5<486::aid-ajmg10>3.0.co;2-o

Genes

COMP

Provenance

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Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.PMID 10405447Read ↗

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Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.Semantic proximity Read ↗

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