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

The molecular genetic diagnosis of Wilson's disease in the 5-year-old sister of a patient with Wilson's disease is reported. The girl was clinically free of disease and had no conventional biochemical markers of Wilson's disease (i.e., normal ceruloplasmin, normal copper in the serum,...

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Veröffentlicht in:	Gastroenterology (New York, N.Y. 1943) N.Y. 1943), 1995-12, Vol.109 (6), p.2015-2018
Hauptverfasser:	Maier-Dobersberger, Theresia, Mannhalter, Christine, Rack, Sabine, Granditsch, Gerhard, Kaserer, Klaus, Korninger, Lisa, Steindl, Petra, Gangl, Alfred, Ferenci, Peter
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Biological and medical sciences Biopsy Child Child, Preschool Copper - analysis DNA - analysis Errors of metabolism Family Health Female Genetic Linkage Hepatolenticular Degeneration - diagnosis Hepatolenticular Degeneration - genetics Hepatolenticular Degeneration - metabolism Humans Liver - chemistry Liver - pathology Male Medical sciences Metabolic diseases Miscellaneous hereditary metabolic disorders Pedigree Polymerase Chain Reaction Polymorphism, Restriction Fragment Length restriction fragment length polymorphism
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