An in-frame insertion in exon 3 and a nonsense mutation in exon 2 of the insulin receptor gene associated with severe insulin resistance in a patient with Rabson-Mendenhall syndrome. [electronic resource]
Producer: 19940201Description: 1168-74 p. digitalISSN:- 0012-186X
- Amino Acid Sequence
- Base Sequence
- Cells, Cultured
- Child
- DNA Primers
- DNA Transposable Elements
- Exons
- Female
- Fibroblasts -- metabolism
- Humans
- Insulin -- metabolism
- Insulin Resistance -- genetics
- Kinetics
- Male
- Molecular Sequence Data
- Mutation
- Phosphorylation
- Point Mutation
- Polymerase Chain Reaction
- Receptor, IGF Type 1 -- metabolism
- Receptor, Insulin -- genetics
- Skin -- metabolism
- Syndrome
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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