DELINEATION OF THE MOLECULAR BASIS OF WILSON DISEASE AS PREREQUISITE FOR A PREVENTIVE PROGRAM BASED ON DNA ANALYSIS

Pubblicazioni Scientifiche

• 1998 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

• 1999 HUMAN MUTATION

  Molecular characterization of Wilson disease in the Sardinian population - Evidence of a founder effect

• 1996 HUMAN GENETICS

  Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients

• 1998 EUROPEAN JOURNAL OF PEDIATRICS

  Early and severe neurological features in a Wilson disease patient compound heterozygous for two frameshift mutations

• 1998 HUMAN MUTATION

  Further delineation of the molecular pathology of Wilson disease in the Mediterranean population

• 1998 EUROPEAN JOURNAL OF HUMAN GENETICS

  Haplotype and mutation analysis in Greek patients with Wilson disease

• 1995 AMERICAN JOURNAL OF HUMAN GENETICS

  MOLECULAR PATHOLOGY AND HAPLOTYPE ANALYSIS OF WILSON DISEASE IN MEDITERRANEAN POPULATIONS