Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome. [electronic resource]
Producer: 20080915Description: 356-62 p. digitalISSN:- 1096-7206
- Adolescent
- Amino Acid Sequence
- Antigens, CD -- genetics
- Base Sequence
- Cell Nucleus -- metabolism
- Craniofacial Abnormalities -- complications
- DNA Mutational Analysis
- Female
- Growth Disorders -- complications
- Humans
- Insulin -- metabolism
- Models, Molecular
- Molecular Sequence Data
- Mutation, Missense -- physiology
- Protein Binding -- genetics
- Protein Subunits -- genetics
- Receptor, Insulin -- genetics
- Sequence Homology, Nucleic Acid
- Syndrome
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.