Diagnosis of Wilson's disease in an asymptomatic sibling by DNA linkage analysis

Gastroenterology

Volumn 109, Issue 6, 1995, Pages 2015-2018

  Maier Dobersberger, Theresia ^a   Mannhalter, Christine ^b   Rack, Sabine ^b   Granditsch, Gerhard ^c   Kaserer, Klaus ^c   Korninger, Lisa ^b   Steindl, Petra ^a   Gangl, Alfred ^a   Ferenci, Peter ^a  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b Institute of Laboratory Medicine   (Austria)

^c Department of Pediatrics Währinger Gürtel ^*  (Austria)

Author keywords

restriction fragment length polymorphism

Indexed keywords

CERULOPLASMIN; PENICILLAMINE;

ADULT; ARTICLE; CERULOPLASMIN BLOOD LEVEL; CHELATION THERAPY; CHILD; CHROMOSOME 13; DNA DETERMINATION; FEMALE; GENETIC ANALYSIS; GENETIC LINKAGE; HUMAN; LIVER BIOPSY; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCHOOL CHILD; WILSON DISEASE;

EID: 0028849049     PISSN: 00165085     EISSN: None     Source Type: Journal    
DOI: 10.1016/0016-5085(95)90771-8     Document Type: Article

References (14)

1. Perspectives on Wilson's disease
2. Hereditary hypoceruloplasminemia
3. Correlation of serum ceruloplasmin with hepatic inflammation in Wilson's disease
4. Copper distribution among serum proteins in paediatric liver disorders and malignancies
5. Assignment of the gene for Wilson's disease to chromosome 13
6. The Wilson's disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene
7. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
8. Mapping, cloning and genetic characterization of the region containing the Wilson's disease gene
9. Penicillamine (PCA) prophylaxis for asymptomatic children with Wilson's disease (WD)
10. Microwave energy for acid decomposition at elevated temperatures and pressures using biological and botanical samples
11. Prenatal diagnosis of Wilson's disease by analysis of DNA polymorphism (letter)
12. DNA markers for the diagnosis of Wilson's disease
13. Presymptomatic testing in families with Wilson's disease