Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease

BMC Gastroenterology

Volumn 10, Issue , 2010, Pages

  Merle, Uta ^a   Weiss, Karl H ^a   Eisenbach, Christoph ^a   Tuma, Sabine ^a   Ferenci, Peter ^b   Stremmel, Wolfgang ^a  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

CERULOPLASMIN; DIANISIDINE; ADENOSINE TRIPHOSPHATASE; CATION TRANSPORT PROTEIN; WILSON DISEASE PROTEIN;

ARTICLE; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; DISEASE MARKER; ENZYME ACTIVITY; ENZYME BLOOD LEVEL; ENZYME IMMUNOASSAY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE; GERMANY; HUMAN; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; ONSET AGE; PREDICTION; RECEIVER OPERATING CHARACTERISTIC; RETROSPECTIVE STUDY; SENSITIVITY AND SPECIFICITY; WILSON DISEASE; WILSON DISEASE GENE; ADOLESCENT; ADULT; BLOOD; CHILD; COHORT ANALYSIS; COMPARATIVE STUDY; ENZYMOLOGY; GENETICS; METABOLISM; MUTATION;

ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ADULT; AGE OF ONSET; CATION TRANSPORT PROTEINS; CERULOPLASMIN; CHILD; COHORT STUDIES; FEMALE; GENOTYPE; HEPATOLENTICULAR DEGENERATION; HUMANS; MALE; MUTATION; MUTATION, MISSENSE; ROC CURVE; YOUNG ADULT;

EID: 77649312565     PISSN: None     EISSN: 1471230X     Source Type: Journal    
DOI: 10.1186/1471-230X-10-8     Document Type: Article

References (24)

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