Müller-Wieland, D <br/><br/>
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] 

 -  Diabetologia  Nov 1993 
 - 1168-74 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0012-186X 
<br/><br/><label>Standard No.: </label>10.1007/BF00401062  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence<br/>Base Sequence<br/>Cells, Cultured<br/>Child<br/>DNA Primers<br/>DNA Transposable Elements<br/>Exons<br/>Female<br/>Fibroblasts--metabolism<br/>Humans<br/>Insulin--metabolism<br/>Insulin Resistance--genetics<br/>Kinetics<br/>Male<br/>Molecular Sequence Data<br/>Mutation<br/>Phosphorylation<br/>Point Mutation<br/>Polymerase Chain Reaction<br/>Receptor, IGF Type 1--metabolism<br/>Receptor, Insulin--genetics<br/>Skin--metabolism<br/>Syndrome