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Keywords: Mutation
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Journal Articles
Diagnosis of Familial Hypercholesterolemia in General Practice Using Clinical Diagnostic Criteria or Genetic Testing as Part of Cascade Genetic Screening
Available to Purchase
Journal:
Community Genetics
Community Genetics (2008) 11 (1): 26–35.
Published Online: 15 January 2008
... to as cascade genetic screening. Methods and Results: One thousand eight hundred and five first-degree relatives of index patients with molecularly defined FH consented to cascade genetic screening by the use of molecular genetic testing. Of these, 44.8% were mutation carriers and 55.2% were noncarriers. Only...