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Cf ola 32 mutations - PowerPoint PPT Presentation

Nick Parkin Trainee Clinical Scientist Wessex Regional Genetics Laboratory

Cystic Fibrosis rare mutation screen. Nick Parkin Trainee Clinical Scientist Wessex Regional Genetics Laboratory. Cystic Fibrosis. Autosomal recessive disorder Caused by homozygous or compound heterozygous defects in the CFTR gene (7q31.2) Carrier frequency of ~ 1 in 24

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Cf ola 32 mutations - PowerPoint PPT Presentation

Nick Parkin Trainee Clinical Scientist Wessex Regional Genetics Laboratory