DELINEATION OF THE MOLECULAR BASIS OF WILSON DISEASE AS PREREQUISITE FOR A PREVENTIVE PROGRAM BASED ON DNA ANALYSIS
- 2 Anni 1994/1996
- 51.646€ Totale Fondi
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Pubblicazioni Scientifiche
- 1995-12-01 AMERICAN JOURNAL OF HUMAN GENETICS
MOLECULAR PATHOLOGY AND HAPLOTYPE ANALYSIS OF WILSON DISEASE IN MEDITERRANEAN POPULATIONS
- 1998-02-01 AMERICAN JOURNAL OF HUMAN GENETICS
The -75A→C substitution in the 5′ UTR of the Wilson disease gene is a sequence polymorphism in the Mediterranean population
- 1998-09-01 EUROPEAN JOURNAL OF HUMAN GENETICS
Haplotype and mutation analysis in Greek patients with Wilson disease
- 1998-02-01 EUROPEAN JOURNAL OF PEDIATRICS
Early and severe neurological features in a Wilson disease patient compound heterozygous for two frameshift mutations
- 1996-12-01 HUMAN GENETICS
Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients
- 1999-01-01 HUMAN MUTATION
Molecular characterization of Wilson disease in the Sardinian population - Evidence of a founder effect
- 1998-01-01 HUMAN MUTATION
Further delineation of the molecular pathology of Wilson disease in the Mediterranean population
