A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking. [electronic resource]
Producer: 20140527Description: 42 p. digitalISSN:- 1471-2350
- Base Sequence
- Blotting, Western
- DNA Primers -- genetics
- Discoidin Domain Receptors
- Dwarfism -- diagnostic imaging
- Humans
- Immunohistochemistry
- Microscopy, Confocal
- Molecular Sequence Data
- Mutation, Missense -- genetics
- Optic Atrophy -- pathology
- Osteochondrodysplasias -- diagnostic imaging
- Pedigree
- Phosphorylation
- Protein Transport -- genetics
- Radiography
- Receptor Protein-Tyrosine Kinases -- genetics
- Receptors, Mitogen -- genetics
- Sequence Analysis, DNA
- Sequence Deletion -- genetics
- Siblings
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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