Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. [electronic resource]
Producer: 20040422Description: 187-92 p. digitalISSN:- 1552-4825
- Adolescent
- Amino Acid Substitution
- Anion Transport Proteins
- Carrier Proteins -- genetics
- Child
- Child, Preschool
- DNA -- chemistry
- DNA Mutational Analysis
- Family Health
- Female
- Genes, Recessive -- genetics
- Homozygote
- Humans
- Male
- Membrane Transport Proteins
- Mutation
- Osteochondrodysplasias -- genetics
- Patella -- abnormalities
- Sulfate Transporters
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.