MOLECULAR BASIS OF DIAMOND BLACKFAN ANEMIA
- 2 Anni 1997/1999
- 82.633€ Totale Fondi
Descrizione non disponibile
Pubblicazioni Scientifiche
- 1999 Blood
Mutations in ribosomal protein S19 gene and Diamond Blackfan anemia: Wide variations in phenotypic expression
- 1999 BRITISH JOURNAL OF HAEMATOLOGY
Diamond-Blackfan anaemia in the Italian population
- 1998 AMERICAN JOURNAL OF HUMAN GENETICS
Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity
- 2003 JOURNAL OF MEDICAL GENETICS
Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene
- 2000 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 NATURE GENETICS
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia
