Mutational analysis of ATP7B in north Chinese patients with Wilson disease

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

Wilson disease

(2011) Dominik Huster   BEST PRACTICE & RESEARCH IN CLINICAL GASTROENTEROLOGY

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

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

Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation

(2011) Li-Hua Wang et al.   JOURNAL OF HUMAN GENETICS

Wilson Disease: Pathogenesis and Clinical Considerations in Diagnosis and Treatment

(2011) Richard Rosencrantz et al.   SEMINARS IN LIVER DISEASE

Genetic Polymorphisms of Copper-and Platinum Drug-efflux Transporters ATP7A and ATP7B in Japanese Cancer Patients

(2010) Hiromi Fukushima-Uesaka et al.   Drug Metabolism and Pharmacokinetics

Using SIFT and PolyPhen to Predict Loss-of-Function and Gain-of-Function Mutations

(2010) Sarah E. Flanagan et al.   Genetic Testing and Molecular Biomarkers

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

(2010) Lei Wan et al.   HEPATOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver, by S. A. Kinnier Wilson, (From the National Hospital, and the Laboratory of the National Hospital, Queen Square, London) Brain 1912: 34; 295-509.

(2009) A. Compston   BRAIN

Increased levels of copper efflux transporter ATP7B are associated with poor outcome in colorectal cancer patients receiving oxaliplatin-based chemotherapy

(2009) Eva Martinez-Balibrea et al.   INTERNATIONAL JOURNAL OF CANCER

SNAP predicts effect of mutations on protein function

(2008) Yana Bromberg et al.   BIOINFORMATICS

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

ATP7B antisense oligodeoxynucleotides increase the cisplatin sensitivity of human ovarian cancer cell line SKOV3ipl

(2007) W. XU et al.   INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER