A new mutation of Wilson's disease P-type ATPase gene in a patient with cirrhosis and Coombs-positive hemolytic anemia

Digestive Diseases and Sciences

Volumn 51, Issue 1, 2006, Pages 34-38

  Leggio, Lorenzo ^a,c   Addolorato, Giovanni ^a   Loudianos, Georgios ^b   Abenavoli, Ludovico ^a   Lepori, Maria Barbara ^b   Vecchio, Fabio Maria ^a   Rapaccini, Gian Ludovico ^a   De Virgiliis, Stefano ^b   Gasbarrini, Giovanni ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b UNIVERSITY OF CAGLIARI   (Italy)

^c FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

Author keywords

Genotype; Homozygote mutation; Phenotype; Wilson's disease

Indexed keywords

ADENOSINE TRIPHOSPHATASE; PENICILLAMINE;

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; COOMBS POSITIVE HEMOLYTIC ANEMIA; GENE MUTATION; GENETIC ANALYSIS; HUMAN; LABORATORY TEST; LIVER CIRRHOSIS; MALE; OPHTHALMOSCOPY; PRIORITY JOURNAL; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; ADULT; ANEMIA, HEMOLYTIC; BIOPSY; CATION TRANSPORT PROTEINS; COOMBS' TEST; DNA; FOLLOW-UP STUDIES; HUMANS; LIVER CIRRHOSIS; MALE; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEVERITY OF ILLNESS INDEX;

EID: 30844463041     PISSN: 01632116     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10620-006-3080-8     Document Type: Article

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