Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia. [electronic resource]
Producer: 19990209Description: 633-8 p. digitalISSN:- 0340-6717
- Achondroplasia -- genetics
- Cartilage Oligomeric Matrix Protein
- Extracellular Matrix Proteins -- genetics
- Genotype
- Glycoproteins -- genetics
- Humans
- Matrilin Proteins
- Mutation
- Osteochondrodysplasias -- genetics
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Sequence Analysis, DNA
- Sequence Deletion
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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