A novel LEMD3 mutation common to patients with osteopoikilosis with and without melorheostosis. [electronic resource]
Producer: 20071101Description: 81-4 p. digitalISSN:- 0171-967X
- Adult
- Azores
- Base Sequence -- genetics
- Bone and Bones -- diagnostic imaging
- Codon, Nonsense -- genetics
- DNA -- blood
- DNA Mutational Analysis
- DNA-Binding Proteins
- Exons -- genetics
- Female
- Genetic Markers -- genetics
- Genetic Predisposition to Disease -- genetics
- Genetic Testing
- Genotype
- Heterozygote
- Humans
- Ireland
- Male
- Melorheostosis -- genetics
- Membrane Proteins -- genetics
- Mutation -- genetics
- Nuclear Proteins -- genetics
- Osteopoikilosis -- genetics
- Pedigree
- Radiography
No physical items for this record
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.