Published in Physician Law Weekly, March 23rd, 2005
"Mutations in the CFTR, an integral membrane protein, cause cystic fibrosis (CF). The most common CF-causing mutant, deletion of Phe508, fails to properly fold. To elucidate the role Phe508 plays in the folding of CFTR, missense mutations at this position were generated," wrote P.H. Thibodeau and colleagues, University of Texas Southwestern Medical Center.
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