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ATP7B Gene Mutations in Croatian Patients with Wilson Disease.

Genetic testing and molecular biomarkers - 1 Mar 2016

Ljubić Hana, Kalauz Mirjana, Telarović Srđana, Ferenci Peter, Ostojić Rajko, Noli Maria Cristina, Lepori Maria Barbara, Hrstić Irena, Vuković Jurica, Premužić Marina, Radić Davor, Ravić Katja Grubelić, Sertić Jadranka, Merkler Ana, Barišić Ana Acman, Loudianos Georgios, Vucelić Boris

Abstract excerpt

AIMS: Wilson disease (WD) is an autosomal recessive disorder of copper metabolism, characterized by its accumulation in tissues which results in hepatic, neurological, and/or psychiatric symptoms. The aim of this study was to investigate the genetics of WD in Croatian patients. METHODS: Correlation of the clinical presentation subtype and the age at onset of the diagnosis of WD with the ATP7B genotype was...

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PMID: 26799313
DOI: 10.1089/gtmb.2015.0213

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