Haemolytic onset of Wilson disease in a patient with homozygous truncation of ATP7B at Arg1319

British Journal of Haematology

Volumn 114, Issue 1, 2001, Pages 230-232

  Prella, Maura ^a   Baccalà, Roberto ^a   Horisberger, Jean Daniel ^b   Belin, Dominique ^c   Di Raimondo, Francesco ^d   Invernizzi, Rosangela ^e   Garozzo, Rosaria ^d   Schapira, Marc ^a,f  

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^b Laboratory of Cellular and Molecular Neurotherapies   (Switzerland)

^c UNIVERSITY OF GENEVA   (Switzerland)

^d UNIVERSITY OF CATANIA   (Italy)

^e UNIVERSITY OF PAVIA   (Italy)

^f UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

ATP7B; Genotype phenotype relationship; Haemolytic anaemia; Thrombocytopenia; Wilson disease

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ARGININE; UNCLASSIFIED DRUG; WILSON DISEASE PROTEIN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; FEMALE; GENOTYPE; HEMOLYSIS; HEMOLYTIC ANEMIA; HOMOZYGOSITY; HUMAN; PHENOTYPE; PRIORITY JOURNAL; THROMBOCYTOPENIA; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; ADULT; ANEMIA, HEMOLYTIC; CARRIER PROTEINS; CATION TRANSPORT PROTEINS; CHELATING AGENTS; CHELATION THERAPY; COPPER; FEMALE; HEPATOLENTICULAR DEGENERATION; HOMOZYGOTE; HUMANS; MALE; MUTATION; SEQUENCE ANALYSIS, DNA; THROMBOCYTOPENIA; TRIETHYLENETETRAMINE;

EID: 0034928784     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2001.02899.x     Document Type: Article

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