MOLECULAR GENETICS OF NONSYNDROMIC RECESSIVE DEAFNESS: TOWARDS THE DEFINITION OF LOCI INVOLVED AND GENES IDENTIFICATION

Pubblicazioni Scientifiche

• 1998 EUROPEAN JOURNAL OF HUMAN GENETICS

  Genetic homogeneity of lysinuric protein intolerance

• 1999 HUMAN MUTATION

  Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome

• 1998 LANCET

  Connexin-26 mutations in sporadic and inherited sensorineural deafness

• 1997 HUMAN MOLECULAR GENETICS

  Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans

• 1997 JOURNAL OF CHROMATOGRAPHY A

  Rapid sizing of polymorphic microsatellite markers by capillary array electrophoresis