MOLECULAR BASIS OF DIAMOND BLACKFAN ANEMIA

Pubblicazioni Scientifiche

• 1998-11-01 AMERICAN JOURNAL OF HUMAN GENETICS

  Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity

• 1999-12-15 BLOOD

  Mutations in ribosomal protein S19 gene and Diamond Blackfan anemia:: Wide variations in phenotypic expression

• 2000-10-01 BLOOD CELLS MOLECULES AND DISEASES

  Diamond-Blackfan anemia: Report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population

• 1999-03-01 BRITISH JOURNAL OF HAEMATOLOGY

  Diamond-Blackfan anaemia in the Italian population

• 2003-12-01 JOURNAL OF MEDICAL GENETICS

  Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene -: art. no. e133

• 1999-02-01 NATURE GENETICS

  The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia