A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix. [electronic resource]
Producer: 19940412Description: 236-42 p. digitalISSN:- 0340-6717
- Abnormalities, Multiple -- genetics
- Achondroplasia -- diagnostic imaging
- Adolescent
- Adult
- Cartilage -- metabolism
- Cell Line
- Child
- Extracellular Matrix Proteins -- genetics
- Female
- Genetic Linkage
- Humans
- Inclusion Bodies -- ultrastructure
- Infant
- Male
- Osteochondrodysplasias -- diagnostic imaging
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Polymorphism, Restriction Fragment Length
- Radiography
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Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.
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