HUM-MOLGEN DIAGnostics/Clinical Research


mutations in the dystrophin gene

My name is Henry Chromow. I am a student working in the Sudol lab at The Mt. Sinai School of Medicine. Our lab has identified a signaling module in the human dystrophin protein- it is called WW-Domain. It is composed of 38 amino acids forming a three-dimensional structure that interacts specifically with the poly-proline region of the beta-dystroglycan receptor. One of my aims is to identify deletions and point-mutations that map the WW-Domain dystrophin. More precisely, any mutation that is localized in the gene, corresponding to the amino acid sequence of dystrophin in the position of 3000-3300 amino acid (according to Kunkel et al.) is of interest to us. We would appreciate your help if you could direct us to appropriate sources or if you could help us locate unpublished information on point mutations in the dystrophin.

Sincere thanks, Henry Chromow

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