From gene to disease; Wilson disease: Copper storage due to mutations in ATP7B;Van gen naar ziekte; de ziekte van Wilson: Koperstapeling door mutaties in ATP7B

Nederlands Tijdschrift voor Geneeskunde

Volumn 147, Issue 13, 2003, Pages 603-605

  Stapelbroek, J M ^a   Ploos Van Amstel, J K ^a   Van Hattum, J ^a   Van Den Berg, L H ^a   Klomp, L W J ^a   Houwen, R H J ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ADENOSINE TRIPHOSPHATASE TYPE P; COPPER; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; COPPER METABOLISM; GENE; GENE ATP7B; GENE EXPRESSION; GENE MUTATION; GENETIC DISORDER; HUMAN; LIVER INJURY; NEUROLOGIC DISEASE; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; BRAIN; COPPER; HEPATOLENTICULAR DEGENERATION; HUMANS; LIVER; MUTATION;

EID: 0037471784     PISSN: 00282162     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

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2. Nazer H, Ede RJ, Mowat AP, Williams R. Wilson's disease: clinical presentation and use of prognostic index. Gut 1986;27:1377-81.
3. Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 1993;5:327-37.
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8. Strand S, Hofmann WJ, Grambihler A, Hug H, Volkmann M, Otto G, et al. Hepatic failure and liver cell damage in acute Wilson's disease involve CD95 (APO-1/Fas) mediated apoptosis. Nat Med 1998;4:588-93.
9. Houwen RH, Juyn J, Hoogenraad TU, Ploos van Amstel JK, Berger R. H714Q mutation in Wilson disease is associated with late, neurological presentation. J Med Genet 1995;32:480-2.