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Updated: Aug 13, 2026

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations
Published on: March 29, 2017
Direct diagnosis of Wilson disease by molecular genetics
Silvia Caprai1, Georgios Loudianos, Francesco Massei
1Unità di Gastroenterologia ed Epatologia, Azienda Ospedaliera Universitaria di Pisa, Dipartimento di Medicina della Procreazione e dell'Età Evolutiva, University of Pisa, Italy.
Abstract:
In 3 children with chronic liver disease, although multiple studies of copper metabolism were normal, which made the diagnosis of Wilson disease unlikely, analysis of ATP7B gene showed disease causing mutations in all. Molecular diagnosis should be considered in children with enigmatic liver disease, especially those with features of nonalcoholic fatty liver disease.

