Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype. [electronic resource]
Producer: 20140722Description: 387-92 p. digitalISSN:- 1569-1802
- Amino Acid Sequence
- Base Sequence
- Chromosome Mapping
- Cytoskeletal Proteins -- genetics
- DNA Polymerase II -- genetics
- Gene Components
- Humans
- Joint Instability -- genetics
- Molecular Sequence Data
- Mutation, Missense -- genetics
- Nuclear Proteins -- genetics
- Osteochondrodysplasias -- genetics
- Pedigree
- Polymorphism, Single Nucleotide -- genetics
- Protein Isoforms -- genetics
- Sequence Alignment
- Sequence Analysis, DNA
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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