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Researchers identify second gene responsible for rare syndrome associated with skeletal defects

ndividuals, who did not have a mutation in the LMNA gene, one was found to have mutations in ZMPSTE24. Dr. Garg is currently searching for mutations in other genes that are involved in processing of lamin A in three of the patients who did not have mutations in either LMNA or ZMPSTE24.


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Contact: Amy Shields
amy.shields@utsouthwestern.edu
214-648-3404
UT Southwestern Medical Center
15-Aug-2003


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