ATP7B Gene Mutations in Croatian Patients with Wilson Disease-Reference-Cited by-同舟云学术

ATP7B Gene Mutations in Croatian Patients with Wilson Disease

Published:2016-03 Issue:3 Volume:20 Page:112-117
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Ljubić Hana¹,Kalauz Mirjana²,Telarović Srđana³,Ferenci Peter⁴,Ostojić Rajko²,Noli Maria Cristina⁵,Lepori Maria Barbara⁵,Hrstić Irena⁶,Vuković Jurica⁷,Premužić Marina²,Radić Davor²,Ravić Katja Grubelić²,Sertić Jadranka¹,Merkler Ana¹,Barišić Ana Acman¹,Loudianos Georgios⁸,Vucelić Boris²

Affiliation:

1. Department of Laboratory Diagnostics, University Hospital Centre Zagreb, Zagreb, Croatia.

2. Department of Internal Medicine, University Hospital Centre Zagreb, Zagreb, Croatia.

3. Department of Neurology, University Hospital Centre Zagreb, Zagreb, Croatia.

4. Division of Gastroenterology and Hepatology, Department of Internal Medicine III, Medical University of Vienna, Vienna, Austria.

5. Department of Public Health and Clinical and Molecular Medicine, University of Cagliari, Cagliari, Italy.

6. Department of Internal Medicine, General Hospital Pula, Pula, Croatia.

7. Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.

8. Ospedale Regionale Microcitemie, ASL 8, Cagliari, Italy.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical),General Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2015.0213

Reference27 articles.

1. A method and server for predicting damaging missense mutations

2. The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene

3. High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype–genotype analysis

4. PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

5. EASL Clinical Practice Guidelines: Wilson’s disease

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