Geographic distribution of ATP7B mutations in Wilson disease

Wilson Disease Mutation Pattern with Genotype-Phenotype Correlations from Western India: Confirmation of p.C271* as a Common Indian Mutation and Identification of 14 Novel Mutations

(2013) Annu Aggarwal et al.   ANNALS OF HUMAN GENETICS

A genetic study of Wilson’s disease in the United Kingdom

(2013) Alison J. Coffey et al.   BRAIN

Mutation analysis of ATP7B gene in Turkish Wilson disease patients: Identification of five novel mutations

(2013) Ozlenen Simsek Papur et al.   European Journal of Medical Genetics

Relative exchangeable copper: A promising tool for family screening in Wilson disease

(2013) Jean-Marc Trocello et al.   MOVEMENT DISORDERS

Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease

(2012) Narges Zali et al.   Hepatitis Monthly

Molecular analysis of Wilson patients: Direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis

(2012) Muriel Bost et al.   JOURNAL OF TRACE ELEMENTS IN MEDICINE AND BIOLOGY

Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations

(2011) Xin-Hua Li et al.   BMC Medical Genetics

Phenotypic and Genetic Characterization of a Cohort of Pediatric Wilson Disease Patients

(2011) Tawhida Y Abdel Ghaffar et al.   BMC Pediatrics

Relative exchangeable copper: A new highly sensitive and highly specific biomarker for Wilson's disease diagnosis

(2011) Souleiman El Balkhi et al.   CLINICA CHIMICA ACTA

Clinical presentation and mutations in Danish patients with Wilson disease

(2011) Lisbeth Birk Møller et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Development of a high-resolution melting method for the screening of Wilson disease-related ATP7B gene mutations

(2010) Chin-Wen Lin et al.   CLINICA CHIMICA ACTA

Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B

(2010) Lei Wan et al.   HEPATOLOGY

Current State of Wilson Disease Patients in Central Japan

(2010) Yasuaki Tatsumi et al.   INTERNAL MEDICINE

Development of TaqMan allelic specific discrimination assay for detection of the most common Sardinian Wilson's disease mutations. Implications for genetic screening

(2010) Antonietta Zappu et al.   MOLECULAR AND CELLULAR PROBES

The conquest of Wilson's disease

(2009) J. M. Walshe   BRAIN

Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease

(2009) L Gojová et al.   CLINICAL GENETICS

Wilson Disease in Children: Analysis of 57 Cases

(2009) Nina Manolaki et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Rapid diagnosis of Wilson disease by a 28-mutation panel: Real-time amplification refractory mutation system in diagnosing acute Wilsonian liver failure

(2008) Chloe M. Mak et al.   CLINICA CHIMICA ACTA

Diagnosis and treatment of Wilson disease: An update

(2008) Eve A. Roberts et al.   HEPATOLOGY

Role of genotyping in Wilson’s disease

(2008) Hartmut H.-J. Schmidt   JOURNAL OF HEPATOLOGY

Neurological manifestations and ATP7B mutations in Wilson's disease

(2007) Alexandre Aluizio Costa Machado et al.   PARKINSONISM & RELATED DISORDERS