Molecular diagnosis of Wilson's disease

Molecular diagnosis of Wilson's disease

Shimizu et al have diagnosed Wilson's disease in an eight-month-old baby on the basis of gene analysis.

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Bibliographische Detailangaben
Veröffentlicht in:The Lancet (British edition) 1997-06, Vol.349 (9068), p.1811-1812
Hauptverfasser: Shimizu, Norikazu, Nakazono, Hiroki, Watanabe, Atsuko, Yamaguci, Yukitoshi, Hemmi, Hiromichi, Aoki, Tsugutoshi
Format: Artikel
Sprache:eng
Schlagworte:
Babies
Biological and medical sciences
Disease
DNA - genetics
Errors of metabolism
Genetic Markers
Hepatolenticular Degeneration - diagnosis
Hepatolenticular Degeneration - genetics
Humans
Infant
Male
Medical sciences
Metabolic diseases
Miscellaneous hereditary metabolic disorders
Pediatrics
Point Mutation
Polymerase Chain Reaction
Sequence Analysis, DNA
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Beschreibung
Zusammenfassung:Shimizu et al have diagnosed Wilson's disease in an eight-month-old baby on the basis of gene analysis.
ISSN:0140-6736
1474-547X
DOI:10.1016/S0140-6736(05)61691-1