Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia. [electronic resource]
Producer: 20020214Description: 135-9 p. digitalISSN:- 0148-7299
- Achondroplasia -- diagnostic imaging
- Adolescent
- Amino Acid Sequence
- Cartilage Oligomeric Matrix Protein
- Exons
- Extracellular Matrix Proteins -- chemistry
- Genotype
- Glycoproteins -- chemistry
- Humans
- Male
- Matrilin Proteins
- Molecular Sequence Data
- Mutation
- Pedigree
- Phenotype
- Protein Structure, Tertiary
- Radiography
- Sequence Homology, Amino Acid
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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