FAA GENE: GENE EXPRESSION, PROTEIN CHARACTERIZATION AND MOUSE HOMOLOGOUS FAA GENE

Pubblicazioni Scientifiche

• 1999 EUROPEAN JOURNAL OF HUMAN GENETICS

  Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene

• 1999 Blood

  Nuclear localization of the Fanconi anemia protein FANCC is required for functional activity

• 1999 NATURE GENETICS

  Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism

• 1998 GENOMICS

  Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions

• 2001 HORMONE RESEARCH

  Frasier syndrome with childhood-onset renal failure