Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene

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Bibliographische Detailangaben
Veröffentlicht in:	European journal of pediatrics 2002-02, Vol.161 (2), p.124-126
Hauptverfasser:	OHYA, Kazuhiro, ABO, Wataru, TAMAKI, Hisamitsu, SUGAWARA, Chieko, ENDO, Tetsuya, NOMACHI, Shosuke, FUKUSHI, Masaru, KINEBUCHI, Miyuki, MATSUURA, Akihiro
Format:	Artikel
Sprache:	eng
Schlagworte:	Adenosine Triphosphatases - genetics Adolescent Base Sequence Biological and medical sciences Carbohydrates (enzymatic deficiencies). Glycogenosis DNA Mutational Analysis Errors of metabolism Genetic Testing - methods Hepatolenticular Degeneration - diagnosis Hepatolenticular Degeneration - genetics Humans Male Medical sciences Metabolic diseases Metals (hemochromatosis...) Molecular Sequence Data Mutation Other metabolic disorders Pedigree Polymerase Chain Reaction - methods Prognosis Severity of Illness Index Time Factors
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