Case report incidental finding of a homozygous p.m348k asymptomatic italian patient confirms the many faces of cystic fibrosis

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  • who: Rossana Molinario et al. from the Laboratory of Clinical Molecular and Personalized Diagnostics, Department of Laboratory Medicine, University Hospital "AGemelli", Largo AGemelli, Rome, Italy have published the paper: Case Report Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic Fibrosis, in the Journal: (JOURNAL) of 16/01/2015
  • what: The authors report the case of a 47-year-old apparently normal male resulting in homozygosity for the mutation p.M348K from nonconsanguineous parents. The authors report the case of a 47-year-old Italian male who was . . .

     

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